O95886
PR
Gene name |
DLGAP3 (DAP3) |
Protein name |
Disks large-associated protein 3 |
Names |
DAP-3, PSD-95/SAP90-binding protein 3, SAP90/PSD-95-associated protein 3, SAPAP3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:58512 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O95886
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95886-F1 | Predicted | AlphaFoldDB |
811 variants for O95886
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA339330190 rs1209751563 |
2 | R>K | No |
ClinGen gnomAD |
|
|
CA756053 rs779997406 |
3 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA339330012 rs1274918664 |
6 | G>S | No |
ClinGen gnomAD |
|
|
rs1569647131 CA339329972 |
7 | D>A | No |
ClinGen Ensembl |
|
|
rs923667844 CA20577123 |
7 | D>E | No |
ClinGen TOPMed |
|
|
rs749205640 CA756051 |
7 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339329956 rs1380796183 |
8 | R>* | No |
ClinGen gnomAD |
|
|
CA756050 rs777705397 |
8 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777705397 CA339329940 COSM1342095 |
8 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA20577102 rs963599250 |
9 | G>D | No |
ClinGen Ensembl |
|
|
CA339329803 rs1416789057 |
11 | H>Q | No |
ClinGen TOPMed |
|
|
rs755859473 CA756049 |
11 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016303145 CA20577081 |
11 | H>Y | No |
ClinGen Ensembl |
|
|
rs1292859040 CA339329774 |
12 | P>R | No |
ClinGen gnomAD |
|
|
rs752490444 CA756048 |
12 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA756047 rs377135837 |
13 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA756046 rs370097610 |
13 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1409887611 CA339329730 |
14 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339329684 rs990756843 |
15 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs990756843 CA339329681 |
15 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1256722625 CA339329693 |
15 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs990756843 CA20577048 |
15 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339329675 rs1475881067 |
16 | R>C | No |
ClinGen gnomAD |
|
|
rs369407472 CA756045 |
16 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339329559 rs1186756769 |
18 | A>V | No |
ClinGen gnomAD |
|
|
CA339329518 rs1256238730 |
19 | D>H | No |
ClinGen TOPMed |
|
|
CA339329401 rs1471630213 |
20 | Q>R | No |
ClinGen gnomAD |
|
|
CA339329272 rs1318859200 |
22 | H>R | No |
ClinGen TOPMed |
|
|
CA339329230 rs1266351452 |
23 | M>V | No |
ClinGen gnomAD |
|
|
CA339329193 rs1182330337 |
24 | D>A | No |
ClinGen gnomAD |
|
|
CA20577017 rs75776668 |
25 | V>G | No |
ClinGen Ensembl |
|
|
rs376203985 CA20577023 |
25 | V>L | No |
ClinGen Ensembl |
|
|
CA756042 rs773815222 |
26 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs765844167 CA756041 |
26 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA339329083 rs773815222 |
26 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA339329031 rs1272675418 |
28 | A>T | No |
ClinGen gnomAD |
|
|
rs867513962 CA20577008 |
28 | A>V | No |
ClinGen gnomAD |
|
|
rs1016087540 CA20576980 |
30 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 30 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339328858 rs1441855396 |
31 | A>T | No |
ClinGen gnomAD |
|
|
rs1243036749 CA339328789 |
33 | Y>* | No |
ClinGen TOPMed |
|
|
rs1260622650 CA339328814 |
33 | Y>N | No |
ClinGen gnomAD |
|
|
rs1328460832 CA339328766 |
34 | L>Q | No |
ClinGen gnomAD |
|
|
CA339328724 rs1394536499 |
36 | G>S | No |
ClinGen gnomAD |
|
|
rs866841701 CA20576972 |
36 | G>V | No |
ClinGen Ensembl |
|
|
CA756037 rs747171389 |
37 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20576962 rs113562469 |
39 | E>* | No |
ClinGen Ensembl |
|
|
rs775834063 CA339328469 |
40 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339328474 rs1158790207 |
40 | A>S | No |
ClinGen gnomAD |
|
|
CA339328502 rs1158790207 |
40 | A>T | No |
ClinGen gnomAD |
|
|
CA756036 rs775834063 |
40 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339328449 rs1569646699 |
41 | F>Y | No |
ClinGen Ensembl |
|
|
CA20576959 rs952820030 |
43 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA20576953 rs1025700190 |
43 | T>I | No |
ClinGen TOPMed |
|
|
COSM239579 CA756034 rs527841852 |
44 | E>K | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs552097335 RCV000895832 CA756032 |
45 | P>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA20576928 rs552097335 |
45 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567109248 CA20576945 |
45 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA756033 rs567109248 RCV000895833 |
45 | P>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs748139786 CA756031 |
46 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339328269 rs1285173613 |
46 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339328146 rs1400658232 |
48 | C>Y | No |
ClinGen gnomAD |
|
|
rs780843750 CA756030 |
49 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339328096 rs780843750 |
49 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM186277 rs544160613 CA756027 |
50 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA756028 rs544160613 |
50 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA756029 rs754841934 |
50 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1569646556 TCGA novel CA339328018 |
52 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs890025543 CA20576869 |
53 | G>S | No |
ClinGen TOPMed |
|
|
rs749968105 CA756025 |
55 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399801968 CA339327835 |
56 | H>Q | No |
ClinGen gnomAD |
|
|
CA339327861 rs1159315664 |
56 | H>R | No |
ClinGen gnomAD |
|
|
rs1378214753 CA339327831 |
57 | I>L | No |
ClinGen gnomAD |
|
|
CA339327829 rs1378214753 |
57 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762407173 CA756023 |
59 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339327653 rs1454644709 |
60 | E>K | No |
ClinGen gnomAD |
|
|
CA339327606 rs764347262 |
62 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1486864242 CA339327601 |
62 | P>L | No |
ClinGen gnomAD |
|
|
CA756021 rs764347262 |
62 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA20576822 rs1042168477 |
65 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339327518 rs1042168477 |
65 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1282898084 CA339327476 |
67 | E>G | No |
ClinGen gnomAD |
|
|
rs1235408560 CA339327438 |
68 | G>E | No |
ClinGen gnomAD |
|
|
CA756017 rs375429909 |
69 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375429909 CA756018 |
69 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3934689 rs771062998 CA756015 |
70 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA339327338 rs1358293001 |
71 | V>A | No |
ClinGen gnomAD |
|
|
CA756013 rs373641758 |
71 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435064000 CA339327306 |
72 | G>V | No |
ClinGen gnomAD |
|
|
rs1484490886 CA339327272 |
73 | P>H | No |
ClinGen gnomAD |
|
|
CA339327203 rs1430282574 |
75 | G>E | No |
ClinGen gnomAD |
|
|
rs1173846277 CA339327208 |
75 | G>R | No |
ClinGen gnomAD |
|
|
rs1476890521 CA339327126 |
76 | G>A | No |
ClinGen gnomAD |
|
|
CA339327125 rs1476890521 |
76 | G>E | No |
ClinGen gnomAD |
|
|
rs746825101 CA756011 |
76 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339327117 rs1259792464 |
77 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1259792464 CA339327123 |
77 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1211902467 CA339327112 |
78 | A>T | No |
ClinGen gnomAD |
|
|
CA756010 rs561775273 |
78 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1308667435 CA339327018 |
79 | G>E | No |
ClinGen gnomAD |
|
|
rs1207206387 CA339327023 |
79 | G>W | No |
ClinGen gnomAD |
|
|
CA756006 rs756879931 |
81 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1415073362 CA339326864 |
82 | V>I | No |
ClinGen gnomAD |
|
|
rs557579403 CA20576696 |
83 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557579403 CA756003 |
83 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA756004 rs557579403 |
83 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA756005 rs754254378 |
83 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA20576660 rs777868236 |
84 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA756000 CA756001 rs759748096 |
84 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755999 rs777868236 COSM1342093 |
84 | G>V | large_intestine Variant assessed as Somatic; 6.149e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762874947 RCV000935257 |
85 | G>* | No |
ClinVar dbSNP |
|
| TCGA novel | 85 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768650973 CA755996 |
85 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs779892833 CA755994 |
85 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs768650973 CA755995 |
85 | G>S | No |
ClinGen ExAC gnomAD |
|
| rs762874947 | 85 | G>V | Variant assessed as Somatic; 0.0002636 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA755993 rs779892833 |
85 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs762874947 | 86 | S>* | Variant assessed as Somatic; 0.0001318 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339326678 rs1254501789 |
86 | S>N | No |
ClinGen gnomAD |
|
|
rs1179373894 CA339326595 |
88 | T>I | No |
ClinGen gnomAD |
|
|
rs772030972 CA339326569 |
90 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA755990 rs772030972 |
90 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1251177833 CA339326536 |
91 | R>K | No |
ClinGen gnomAD |
|
|
CA339326465 rs1569645992 |
93 | Y>F | No |
ClinGen Ensembl |
|
|
CA755989 rs745490642 |
93 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 94 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778727538 CA755988 |
94 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339326395 rs1403707043 |
95 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1403707043 CA339326397 |
95 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 96 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20576613 rs998029916 |
97 | G>C | No |
ClinGen Ensembl |
|
|
rs1310155002 CA339326315 |
98 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201890156 CA339326330 |
98 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA755987 rs201890156 |
98 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 99 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA755985 rs377221247 |
101 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339326070 rs1330534346 |
105 | C>Y | No |
ClinGen gnomAD |
|
|
CA339326059 rs1444532025 |
106 | V>M | No |
ClinGen gnomAD |
|
|
CA339325893 rs1165830824 |
110 | Q>E | No |
ClinGen gnomAD |
|
|
CA755984 rs756633348 |
111 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339325794 rs1366875107 |
113 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1161556975 CA339325757 |
114 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339325723 rs1250319709 |
116 | R>C | No |
ClinGen gnomAD |
|
|
CA755983 rs753213244 |
116 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| rs773184820 | 116 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339325728 rs1250319709 |
116 | R>S | No |
ClinGen gnomAD |
|
|
rs1470275039 CA339325662 |
118 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1470275039 CA339325663 |
118 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339325643 rs1254323372 |
119 | P>L | No |
ClinGen gnomAD |
|
|
rs1355046181 CA339325553 |
122 | L>M | No |
ClinGen gnomAD |
|
|
rs1263276619 CA339325522 |
123 | D>N | No |
ClinGen gnomAD |
|
|
rs1240773375 CA339325490 |
124 | Q>P | No |
ClinGen gnomAD |
|
|
rs141873731 CA755981 |
131 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1237862060 CA339325289 |
132 | Q>R | No |
ClinGen gnomAD |
|
|
rs1485622649 CA339325144 |
136 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 136 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569645685 CA339325106 |
137 | H>Y | No |
ClinGen Ensembl |
|
|
CA339324962 rs1326509507 |
143 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1388703529 CA339324953 |
144 | G>R | No |
ClinGen gnomAD |
|
|
CA20576520 rs1042578407 |
145 | P>Q | No |
ClinGen TOPMed |
|
|
rs1454541714 CA339324942 |
145 | P>S | No |
ClinGen gnomAD |
|
|
CA755978 rs199825518 |
146 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755977 rs762882846 |
146 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339324854 rs1396142787 |
148 | A>S | No |
ClinGen gnomAD |
|
|
CA755975 rs765299507 |
150 | P>S | No |
ClinGen ExAC |
|
|
CA339324806 rs765299507 |
150 | P>T | No |
ClinGen ExAC |
|
|
rs771941140 CA755972 CA339324747 |
151 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755971 rs745685047 |
152 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs567556607 CA755970 |
153 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs770634501 CA755969 |
154 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1416192799 CA339324564 |
155 | G>A | No |
ClinGen TOPMed |
|
|
rs1285028699 CA339324590 |
155 | G>R | No |
ClinGen gnomAD |
|
|
rs144823481 CA755968 |
156 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304014011 CA339324469 |
157 | G>D | No |
ClinGen gnomAD |
|
|
CA339324373 rs949139237 |
159 | A>D | No |
ClinGen gnomAD |
|
|
rs748668551 CA755965 |
159 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs949139237 CA20576340 |
159 | A>V | No |
ClinGen gnomAD |
|
|
CA339324224 rs1360073838 |
162 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3785274 CA755962 rs781680529 |
163 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA755961 rs755295590 |
163 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 166 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751934114 CA755958 |
167 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA755957 rs766787160 |
169 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339323907 rs1375424627 |
170 | I>L | No |
ClinGen gnomAD |
|
|
CA755956 rs758641286 |
171 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1214037488 CA339323668 |
177 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1486500060 CA339323448 |
182 | A>P | No |
ClinGen gnomAD |
|
|
rs1199802242 CA339323129 |
189 | A>T | No |
ClinGen gnomAD |
|
|
rs61739348 CA755953 COSM215568 |
189 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA755952 rs775524522 |
190 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339322994 rs1276487848 |
191 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA755951 rs767562574 |
193 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1356466048 CA339322903 |
193 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs767398652 CA20576220 |
200 | A>T | No |
ClinGen gnomAD |
|
|
CA20576218 rs867581824 |
206 | S>F | No |
ClinGen Ensembl |
|
|
CA339322206 rs1476023366 |
208 | G>V | No |
ClinGen gnomAD |
|
|
rs748942410 CA755947 |
212 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 213 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3419151 rs747689409 CA755944 |
213 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs139478899 CA755943 |
214 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139478899 CA755942 |
214 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780364495 CA755940 |
215 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs267598572 CA20576133 |
215 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1165753948 CA339321754 |
217 | G>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 220 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339321596 rs1446183242 |
221 | T>A | No |
ClinGen gnomAD |
|
|
rs1446183242 CA339321606 |
221 | T>P | No |
ClinGen gnomAD |
|
|
CA755938 rs750607423 |
221 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765406109 CA755937 |
223 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757290968 CA755936 |
224 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs753976419 CA755935 |
225 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs764331807 CA755934 |
228 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
CA339320981 rs1413991640 |
233 | H>N | No |
ClinGen gnomAD |
|
|
rs373415799 CA20576043 |
233 | H>Q | No |
ClinGen ESP TOPMed |
|
|
CA20576037 rs893646995 |
234 | H>Y | No |
ClinGen TOPMed |
|
|
rs1471660733 CA339320810 |
236 | S>F | No |
ClinGen gnomAD |
|
|
rs762679901 CA755927 |
237 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20576002 rs1014153960 |
237 | R>P | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762679901 CA755926 |
237 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755924 rs377200647 |
239 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA755923 rs377200647 |
239 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339320636 rs1215574322 |
240 | K>Q | No |
ClinGen gnomAD |
|
|
rs768193885 CA339320479 |
243 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755920 rs747489935 |
246 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs550993893 CA755918 |
247 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA339320326 rs1240043767 |
247 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339320296 rs1240043767 |
247 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs746219123 CA755917 |
249 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20575966 rs1013255574 |
250 | D>G | No |
ClinGen TOPMed |
|
|
CA339320221 rs1157405180 |
250 | D>N | No |
ClinGen TOPMed |
|
|
CA339320077 rs779134886 |
252 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20575950 rs929258984 |
252 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779134886 CA755916 |
252 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757543767 CA755915 |
253 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA755913 rs777972415 |
257 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs754183419 CA755914 |
257 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA755909 rs199638709 |
261 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA755908 rs750199953 |
262 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA339319601 rs1487293430 |
262 | S>I | No |
ClinGen TOPMed |
|
|
CA755907 rs765146772 |
262 | S>R | No |
ClinGen ExAC TOPMed |
|
|
CA755906 rs761423629 |
263 | S>A | No |
ClinGen ExAC |
|
|
rs776312924 CA755905 |
263 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1221988636 CA339319569 |
264 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs768104076 CA755904 |
264 | D>V | No |
ClinGen ExAC |
|
|
CA339319548 rs1221988636 |
264 | D>Y | No |
ClinGen TOPMed |
|
|
CA755903 rs372501031 |
269 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1283740074 CA339319308 |
269 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 272 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA755900 COSM1687439 rs374194309 |
272 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs146229611 CA755896 |
275 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA755897 rs146229611 |
275 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200438997 CA339319007 |
276 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200438997 CA755894 |
276 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA755892 rs148322707 |
279 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339318888 rs148322707 |
279 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3789926 rs1326461735 CA339318799 |
282 | E>K | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 283 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA755890 rs371713295 |
283 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA755889 rs201571698 |
284 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339318730 rs201571698 |
284 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909391352 CA20575714 |
285 | G>V | No |
ClinGen Ensembl |
|
|
CA20575701 rs954108554 |
286 | P>H | No |
ClinGen TOPMed |
|
|
CA20575710 rs868214933 |
286 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA339318550 rs1476436871 |
289 | L>P | No |
ClinGen gnomAD |
|
|
CA339318538 rs1264126338 |
290 | E>Q | No |
ClinGen gnomAD |
|
|
CA20575698 rs867239451 |
292 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339318418 rs1211436930 |
293 | D>G | No |
ClinGen gnomAD |
|
|
rs1282964616 CA339318440 |
293 | D>Y | No |
ClinGen gnomAD |
|
|
CA20575686 rs868322976 |
294 | G>E | No |
ClinGen TOPMed |
|
|
rs868322976 CA339318391 |
294 | G>V | No |
ClinGen TOPMed |
|
|
CA339318356 rs1312181558 |
295 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA755887 rs763738164 |
296 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA755884 rs767125526 |
297 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA755886 rs774846562 |
297 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA339318197 rs1302048226 |
298 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA755883 rs759933700 |
298 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339318066 rs1466375747 |
302 | K>N | No |
ClinGen gnomAD |
|
|
CA339318069 rs1422188483 |
302 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA755880 rs749702516 |
304 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773502530 CA755879 |
304 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs979416425 CA20575614 |
305 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM239578 CA755873 rs778851121 |
307 | G>R | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM2079955 rs147968723 CA755872 |
308 | S>L | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339317768 rs1483129486 |
309 | E>G | No |
ClinGen gnomAD |
|
|
CA339317738 rs1207266140 |
310 | G>V | No |
ClinGen gnomAD |
|
|
CA755869 rs755714641 |
311 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs141061512 CA755868 |
311 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339317637 rs1557489018 |
312 | C>W | No |
ClinGen Ensembl |
|
|
CA755867 rs766919404 |
313 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1315738660 CA339317564 |
315 | C>Y | No |
ClinGen gnomAD |
|
|
CA755866 rs759110951 |
316 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs866718632 CA20575562 |
317 | G>D | No |
ClinGen Ensembl |
|
|
CA339317401 rs1300988328 |
318 | M>I | No |
ClinGen gnomAD |
|
|
CA755864 rs767000218 |
318 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs774683337 CA755865 |
318 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339317222 rs1444346719 |
324 | G>R | No |
ClinGen gnomAD |
|
|
CA339317203 rs1401122958 |
324 | G>V | No |
ClinGen gnomAD |
|
|
CA755862 rs773700330 |
325 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1489289922 CA339317187 |
325 | Q>H | No |
ClinGen gnomAD |
|
|
rs976525981 CA20575537 |
325 | Q>L | No |
ClinGen Ensembl |
|
|
COSM3943992 rs575120770 CA755861 |
326 | S>L | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA339317147 rs1165785517 |
327 | V>I | No |
ClinGen gnomAD |
|
|
CA339317124 rs1423548465 |
328 | K>R | No |
ClinGen gnomAD |
|
|
CA339317094 rs1412135893 |
329 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748295748 CA755860 |
330 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs913199283 CA20575497 |
330 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 332 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277621112 CA339316837 |
335 | M>I | No |
ClinGen gnomAD |
|
|
rs1456093352 CA339316850 |
335 | M>L | No |
ClinGen gnomAD |
|
|
rs1456093352 CA339316852 |
335 | M>V | No |
ClinGen gnomAD |
|
|
CA755856 rs778762840 |
336 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA339316811 rs1235124710 |
337 | V>L | No |
ClinGen gnomAD |
|
|
CA20575467 rs866162563 |
340 | G>D | No |
ClinGen Ensembl |
|
|
rs1557488816 CA339316698 |
340 | G>S | No |
ClinGen Ensembl |
|
|
rs777517092 CA339316666 |
341 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777517092 CA339316669 |
341 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777517092 CA755852 COSM3741243 |
341 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA755853 rs749287337 |
341 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032614081 CA20575462 |
342 | D>E | No |
ClinGen Ensembl |
|
|
rs755990801 CA755851 |
343 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs755990801 CA339316633 |
343 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339316616 rs1180056907 |
344 | Y>F | No |
ClinGen TOPMed |
|
|
CA755850 rs146411302 |
345 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412391133 CA339316591 |
346 | G>A | No |
ClinGen Ensembl |
|
|
rs1392992484 CA339316593 |
346 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969750503 CA20575433 |
347 | A>S | No |
ClinGen Ensembl |
|
|
rs1294313225 CA339316577 |
347 | A>V | No |
ClinGen gnomAD |
|
|
rs763551042 CA339316569 |
348 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA339316572 rs766044952 CA755846 |
348 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA755845 rs763551042 |
348 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA755847 rs766044952 |
348 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339316554 rs1380183550 |
349 | P>L | No |
ClinGen gnomAD |
|
|
rs993104722 CA20575415 |
352 | G>R | No |
ClinGen TOPMed |
|
|
CA20575410 rs897509241 |
352 | G>V | No |
ClinGen Ensembl |
|
|
CA755842 rs762268266 |
353 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs768933071 CA755840 |
356 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218438558 CA339316453 |
358 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA20575326 rs1051068956 |
360 | A>T | No |
ClinGen Ensembl |
|
|
rs1354185494 CA339316391 |
362 | A>V | No |
ClinGen gnomAD |
|
|
rs749205586 CA755836 |
363 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237928288 CA339316369 |
364 | T>S | No |
ClinGen gnomAD |
|
|
rs777715267 CA755835 |
367 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339313195 rs1423118537 |
370 | V>L | No |
ClinGen TOPMed |
|
|
CA339313158 rs1317465073 |
371 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 371 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757775760 CA755807 |
373 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 373 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 373 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267598571 CA20571864 |
375 | W>L | No |
ClinGen gnomAD |
|
|
CA339312899 rs370363181 |
377 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA755805 rs370363181 |
377 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754338328 CA755806 |
377 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754338328 CA339312924 |
377 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs748374796 | 378 | Y>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339312868 rs1569638134 |
378 | Y>S | No |
ClinGen Ensembl |
|
|
CA20571858 rs867975835 |
379 | P>L | No |
ClinGen Ensembl |
|
|
CA755803 rs377339687 |
379 | P>S | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA20571837 rs1034304546 |
380 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs767733655 CA755801 |
381 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339312769 rs1280096300 |
383 | K>N | No |
ClinGen TOPMed |
|
|
CA339312746 rs759558059 |
384 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774476835 CA755799 |
384 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA755800 rs759558059 |
384 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759558059 CA339312741 |
384 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761780543 CA755797 |
387 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1340940463 CA339312578 |
390 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1340940463 CA339312580 |
390 | R>G | No |
ClinGen TOPMed |
|
|
rs776455153 CA755796 |
390 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 392 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM459263 CA755795 rs768529358 |
393 | R>W | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs140339373 CA755793 |
395 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 395 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339312244 COSM1639850 rs1357457625 |
396 | S>R | stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA755790 rs778453291 |
401 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339312043 rs1243233076 |
401 | M>T | No |
ClinGen gnomAD |
|
|
CA339311980 rs1360852425 |
402 | G>R | No |
ClinGen TOPMed |
|
|
rs1446825282 CA339311957 |
403 | D>N | Variant assessed as Somatic; 4.636e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs577849533 CA755789 |
403 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1406803865 CA339311850 |
405 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs150566254 CA339311764 |
406 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756407515 CA755786 |
407 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20571705 rs941264978 |
408 | D>E | No |
ClinGen Ensembl |
|
|
rs146586197 CA755784 |
411 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA755783 rs146586197 |
411 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA755781 rs766461314 |
417 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA20571648 rs745685583 |
418 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1452462922 CA339311356 |
419 | A>T | No |
ClinGen gnomAD |
|
|
CA755780 rs762973030 |
420 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA755776 rs775417791 |
421 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760752627 CA755777 |
421 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760752627 CA755778 |
421 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775417791 CA339311237 |
421 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240115011 CA339311235 |
422 | R>* | No |
ClinGen gnomAD |
|
|
CA755775 rs772028923 |
422 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277323912 CA339311225 |
423 | R>C | No |
ClinGen gnomAD |
|
|
rs1438005840 CA339311223 |
423 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs373027324 CA755774 |
425 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA755772 rs369579388 |
427 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA755773 rs369579388 |
427 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA20571565 rs533262378 |
427 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA755771 rs533262378 |
427 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755770 rs778198945 |
428 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159145122 CA339311030 |
428 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1419090870 CA339311009 |
429 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 429 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770275839 CA755769 |
430 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA339310843 rs1246304927 |
432 | V>A | No |
ClinGen gnomAD |
|
|
rs377551672 CA339310859 |
432 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377551672 CA755767 |
432 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339310736 rs1461610329 |
434 | Q>R | No |
ClinGen gnomAD |
|
|
rs202022852 CA755737 |
441 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA755735 rs746841362 |
442 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339309464 rs751303010 |
444 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755733 rs766267134 |
444 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM139280 rs751303010 CA755734 |
444 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA339309432 rs1569636869 |
446 | H>P | No |
ClinGen Ensembl |
|
|
CA339309399 rs1201155298 |
447 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 448 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 448 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762482299 COSM177448 CA755732 |
448 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA20571220 rs867566767 |
448 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 449 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339309348 rs1415973124 |
449 | S>N | No |
ClinGen gnomAD |
|
|
CA339309366 rs1258247458 |
449 | S>R | No |
ClinGen gnomAD |
|
|
CA755730 rs764680329 |
450 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA339309268 rs1019819055 |
452 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs777062152 CA755728 |
452 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA20571195 rs1019819055 |
452 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339309256 rs1381866271 |
453 | G>S | No |
ClinGen gnomAD |
|
|
CA20571185 rs1007082130 |
455 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA755726 COSM339398 rs747617975 |
456 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM3667295 CA755725 rs199911206 |
456 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1330902197 CA339309155 |
457 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs746036348 CA339309079 |
460 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746036348 CA755723 |
460 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755721 rs757342804 |
461 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA755703 rs749593154 |
464 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 465 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA755700 rs746873015 |
470 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA339305033 rs1384821965 |
470 | Q>K | No |
ClinGen gnomAD |
|
|
rs1378901437 CA339304954 |
471 | L>P | No |
ClinGen gnomAD |
|
|
rs758123884 CA755698 |
472 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA339304884 rs1362172073 |
474 | V>M | No |
ClinGen TOPMed |
|
|
rs1488510743 CA339304865 |
475 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1260895277 CA339304838 |
476 | G>E | No |
ClinGen gnomAD |
|
|
CA339304799 rs1203367158 |
477 | S>L | No |
ClinGen gnomAD |
|
|
rs765082749 CA755696 |
478 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA755695 rs756872643 |
479 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs146911396 CA755694 |
480 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA20555943 rs763460061 |
481 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA755693 rs763460061 |
481 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760259969 CA755692 |
483 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339304463 rs1326262519 |
487 | V>G | No |
ClinGen gnomAD |
|
|
rs1398378872 CA339304413 |
489 | A>T | No |
ClinGen gnomAD |
|
|
rs1403708897 CA339304356 |
490 | L>P | No |
ClinGen gnomAD |
|
|
rs1336754983 CA339304266 |
493 | P>T | No |
ClinGen gnomAD |
|
|
CA339304140 rs1557470583 |
498 | M>V | No |
ClinGen Ensembl |
|
|
CA755688 rs774855462 |
500 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA339303975 rs1374443928 |
503 | Y>C | No |
ClinGen gnomAD |
|
|
CA339303939 rs1190928966 |
505 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339303816 rs1256793219 |
510 | G>D | No |
ClinGen gnomAD |
|
|
CA755686 rs763245559 |
511 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 514 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339303660 rs1260213507 |
516 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 522 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200544522 CA339303504 |
523 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771990969 CA755682 |
523 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755681 rs771990969 |
523 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200544522 CA755683 |
523 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA339303494 rs1315001557 |
524 | P>S | No |
ClinGen gnomAD |
|
|
rs926666699 CA20555818 |
525 | A>V | No |
ClinGen Ensembl |
|
|
rs757062707 CA755678 |
526 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA755677 rs753388735 |
528 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777483391 CA755676 |
529 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA755675 rs368639772 |
530 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1459278104 CA339303336 |
531 | P>L | No |
ClinGen gnomAD |
|
|
rs1165880059 CA339303359 |
531 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339303352 rs1165880059 |
531 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1182965701 CA339303313 |
532 | G>D | No |
ClinGen gnomAD |
|
|
CA339303282 rs1240180304 |
534 | S>A | No |
ClinGen gnomAD |
|
|
CA339303139 rs1201337153 |
537 | F>L | No |
ClinGen gnomAD |
|
|
rs1490606096 CA339303074 |
540 | A>S | No |
ClinGen gnomAD |
|
|
rs868626275 CA20555514 |
541 | P>Q | No |
ClinGen gnomAD |
|
|
rs866901927 CA20555499 |
543 | P>H | No |
ClinGen TOPMed |
|
|
rs866901927 CA20555488 |
543 | P>R | No |
ClinGen TOPMed |
|
|
rs1220887163 CA339303046 |
543 | P>S | No |
ClinGen gnomAD |
|
|
rs866156722 CA339303012 |
545 | P>L | No |
ClinGen TOPMed |
|
|
rs866156722 CA20555485 |
545 | P>Q | No |
ClinGen TOPMed |
|
|
rs776739964 CA755665 |
546 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339303004 rs866789064 |
546 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA20555475 rs866789064 |
546 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA339303003 rs866789064 |
546 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768772899 CA20555446 |
548 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs768772899 CA755664 |
548 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1383093599 CA339302953 |
550 | A>T | No |
ClinGen TOPMed |
|
|
CA20555440 rs867439661 |
551 | P>Q | No |
ClinGen gnomAD |
|
|
CA20555429 rs867129104 |
553 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1005593750 CA20555408 |
554 | I>S | No |
ClinGen TOPMed |
|
|
rs888371668 CA20555404 |
556 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1174878798 CA339302835 |
558 | A>T | No |
ClinGen TOPMed |
|
|
CA339302807 rs1400165252 |
559 | Q>H | No |
ClinGen gnomAD |
|
|
CA755661 rs770643590 |
559 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs939870773 CA20555386 |
561 | S>G | No |
ClinGen Ensembl |
|
|
CA339302778 rs1405930923 |
561 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1205450765 CA339302707 |
565 | A>V | No |
ClinGen TOPMed |
|
|
rs1261064889 CA339302692 |
566 | H>L | No |
ClinGen TOPMed |
|
|
CA339302691 CA339302690 rs1243177616 |
566 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1215757336 CA339302688 |
567 | E>* | No |
ClinGen gnomAD |
|
|
rs866323692 CA20555338 |
568 | S>I | No |
ClinGen gnomAD |
|
|
rs866323692 CA339302657 |
568 | S>T | No |
ClinGen gnomAD |
|
|
rs755789996 CA755658 |
570 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755656 rs780831077 |
571 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780831077 CA339302604 |
571 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339302587 rs1383040165 |
572 | A>V | No |
ClinGen TOPMed |
|
|
rs1221406528 CA339302576 |
573 | E>* | No |
ClinGen gnomAD |
|
|
rs1342192344 CA339302538 |
575 | P>S | No |
ClinGen gnomAD |
|
|
rs965980123 CA339302517 |
577 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs965980123 CA20555311 |
577 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA339302521 rs1405775320 |
577 | R>W | No |
ClinGen TOPMed |
|
|
rs1343492439 CA339302506 |
578 | R>H | No |
ClinGen gnomAD |
|
|
CA755653 rs773856088 |
580 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339302456 rs1569616442 |
580 | S>R | No |
ClinGen Ensembl |
|
|
CA339302450 rs1407475089 |
581 | S>P | No |
ClinGen TOPMed |
|
|
rs758633816 CA755652 CA339302384 |
584 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339302368 rs758633816 |
584 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750793092 CA755651 |
586 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762072609 CA755650 |
587 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762072609 CA755649 |
587 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20555263 rs1010273927 |
588 | P>L | No |
ClinGen Ensembl |
|
|
rs1239732231 CA339301417 |
589 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339301373 rs1569616330 |
590 | M>I | No |
ClinGen Ensembl |
|
|
CA755648 rs776861422 |
590 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA339301317 rs1262093456 |
593 | R>L | No |
ClinGen gnomAD |
|
|
rs910607498 CA20555251 |
594 | T>I | No |
ClinGen TOPMed |
|
|
rs1185214389 CA339301316 |
594 | T>P | No |
ClinGen TOPMed |
|
|
CA339301245 rs1201427077 |
598 | A>T | No |
ClinGen gnomAD |
|
|
CA755647 rs764114823 |
599 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760745553 CA755646 |
600 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339301215 rs760745553 |
600 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774212802 CA755645 |
601 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334962416 CA339301163 |
602 | P>L | No |
ClinGen gnomAD |
|
|
CA339301129 rs1355348711 |
603 | R>Q | No |
ClinGen gnomAD |
|
|
rs1467432297 CA339301157 |
603 | R>W | No |
ClinGen gnomAD |
|
|
rs773032545 CA755642 |
605 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769530242 CA755641 |
605 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs185580342 CA339301092 |
606 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA755640 rs185580342 |
606 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339301082 rs1242065149 |
607 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 610 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 610 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339300806 rs1305573838 |
615 | T>A | No |
ClinGen gnomAD |
|
|
rs1293816515 CA339300796 |
615 | T>I | No |
ClinGen gnomAD |
|
|
CA755632 rs757589277 |
620 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339300604 rs1328740773 |
623 | R>Q | No |
ClinGen TOPMed |
|
|
rs1440437186 CA339300618 |
623 | R>W | No |
ClinGen gnomAD |
|
|
rs554010837 CA755631 |
625 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377616910 CA755630 |
626 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339300352 rs1161058968 |
631 | W>G | No |
ClinGen gnomAD |
|
|
CA339300306 rs1250733753 |
633 | P>S | No |
ClinGen gnomAD |
|
|
rs762929180 CA755626 |
635 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs773050374 CA755625 |
635 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs747900704 CA755623 |
637 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA339299958 rs1407778896 |
641 | T>M | No |
ClinGen gnomAD |
|
|
rs775032756 CA755602 |
644 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA755603 rs760352081 |
644 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA755600 rs373602043 |
648 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143986097 CA755599 |
649 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749836029 CA755597 |
650 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462730790 CA339299697 |
651 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1040792492 CA20554563 |
652 | R>Q | No |
ClinGen gnomAD |
|
|
CA755596 rs778090569 |
658 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA339299388 rs1253386306 |
666 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 667 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372375237 CA755572 |
668 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 670 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA755571 rs529709332 |
670 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1288173605 CA339296171 |
672 | K>E | No |
ClinGen gnomAD |
|
|
CA755569 rs764135834 |
673 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764135834 CA339296164 |
673 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339296149 rs1569592322 |
675 | N>S | No |
ClinGen Ensembl |
|
|
CA755567 rs752428309 |
677 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1225207806 CA339296127 |
678 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339296130 rs1248928126 |
678 | T>S | No |
ClinGen gnomAD |
|
|
rs759090974 CA755565 |
680 | G>C | No |
ClinGen ExAC |
|
|
COSM70461 rs1291733500 CA339296114 |
681 | V>M | lung ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA339296092 rs1569592244 |
684 | D>A | No |
ClinGen Ensembl |
|
|
CA339296086 rs1353709561 |
685 | L>V | No |
ClinGen gnomAD |
|
|
CA339296073 rs1407947705 |
687 | L>V | No |
ClinGen gnomAD |
|
|
rs1569592226 CA339296065 |
688 | E>G | No |
ClinGen Ensembl |
|
|
CA339296061 rs1280897212 |
689 | G>S | No |
ClinGen gnomAD |
|
|
CA339296049 rs1334935065 |
691 | A>T | No |
ClinGen gnomAD |
|
|
rs1305880227 CA339296043 |
692 | G>R | No |
ClinGen gnomAD |
|
|
CA755561 rs773655239 |
694 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA755559 rs367604760 |
695 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339296021 rs1469762996 |
696 | V>L | No |
ClinGen gnomAD |
|
|
CA755558 rs776832849 |
698 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1427241253 CA339295989 |
701 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 703 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20542085 rs866905158 |
705 | F>S | No |
ClinGen Ensembl |
|
|
CA755555 rs373723836 |
707 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA755554 rs758490483 |
707 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA755553 rs199537135 |
708 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1349452637 CA339295923 |
711 | R>K | No |
ClinGen gnomAD |
|
|
CA20542028 rs370493091 |
711 | R>S | No |
ClinGen ESP |
|
|
CA755550 rs756086794 |
713 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA339295911 rs1225093278 |
713 | A>T | No |
ClinGen gnomAD |
|
|
CA339295907 rs756086794 |
713 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1569592011 CA339295877 |
718 | P>T | No |
ClinGen Ensembl |
|
|
rs754834169 CA755547 |
719 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751106796 CA755546 |
720 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA755543 rs772709051 |
721 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755544 rs375417289 |
721 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339295859 rs1243051881 |
722 | A>T | No |
ClinGen TOPMed |
|
|
rs1480951014 CA339295854 |
722 | A>V | No |
ClinGen gnomAD |
|
|
rs747410186 CA755538 |
727 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1464086911 CA339295816 |
728 | F>L | No |
ClinGen gnomAD |
|
|
rs142976280 COSM1342084 CA755537 |
729 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs772418605 CA755536 |
729 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746132929 CA755535 |
730 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217266034 CA339295786 |
733 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA755532 rs747997191 |
737 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339295755 rs1363170382 |
738 | A>T | No |
ClinGen gnomAD |
|
|
CA755531 rs781194450 |
740 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339295741 rs1445588639 |
740 | R>S | No |
ClinGen TOPMed |
|
|
rs1174349202 CA339295734 |
741 | E>K | No |
ClinGen gnomAD |
|
|
CA339295728 rs1465055049 |
742 | G>S | No |
ClinGen TOPMed |
|
|
rs370934625 CA755527 |
746 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370934625 CA339295700 |
746 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA755528 rs779894036 |
746 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3771744 CA755524 rs761387951 |
749 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA339295681 rs1245726919 |
749 | P>S | No |
ClinGen gnomAD |
|
|
CA20541832 rs916821098 |
750 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1309091247 CA339295673 |
751 | A>T | No |
ClinGen gnomAD |
|
|
rs1457761179 CA339295668 |
751 | A>V | No |
ClinGen TOPMed |
|
|
CA20541790 rs928166467 |
753 | D>E | No |
ClinGen gnomAD |
|
|
rs373832741 CA755519 |
753 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1453481443 CA339295644 |
755 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774747027 CA339295640 |
756 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA755517 rs774747027 |
756 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA755515 rs749399902 |
757 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170339389 CA339295628 |
758 | P>L | No |
ClinGen gnomAD |
|
|
CA339295627 rs1428313493 |
759 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777773426 CA755514 |
759 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA755513 rs768638422 |
760 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 760 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs878931421 CA20541737 |
761 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA339295617 rs878931421 |
761 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1329372753 CA339295613 |
761 | A>V | No |
ClinGen TOPMed |
|
|
rs758215471 CA755510 VAR_079371 |
763 | T>P | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA339295598 rs1293886807 |
764 | P>L | No |
ClinGen gnomAD |
|
|
CA755508 rs778639162 |
764 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201877472 CA20541645 |
765 | G>D | No |
ClinGen 1000Genomes |
|
|
CA755506 rs763551958 |
765 | G>R | No |
ClinGen ExAC TOPMed |
|
|
rs763551958 CA755505 |
765 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs1027736188 CA20541643 |
766 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339295580 rs1374339514 |
768 | A>S | No |
ClinGen gnomAD |
|
|
rs753276072 CA755502 |
769 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs767955367 CA755501 |
770 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755500 rs765300605 |
770 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA755499 rs774657338 |
771 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771172185 CA755498 |
771 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774657338 CA339295567 |
771 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763155158 CA755497 |
772 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759589416 CA20541585 |
775 | I>R | No |
ClinGen Ensembl |
|
|
CA20541578 rs948963751 |
776 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA755495 rs372616310 |
777 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746903257 CA755494 |
777 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270917247 CA339295522 |
778 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1223220380 CA339295512 |
779 | S>L | No |
ClinGen gnomAD |
|
|
CA755492 rs771794556 |
780 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339295510 rs771794556 |
780 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755491 rs745644846 |
780 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20541520 rs745644846 |
780 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA755490 rs778636829 |
782 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339295489 rs1287983605 |
784 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 784 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 786 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339295475 rs1347827999 |
786 | G>S | No |
ClinGen gnomAD |
|
|
CA755488 rs369099002 |
787 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA755487 rs776466719 |
787 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755485 rs753189951 |
788 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768153608 CA755484 |
788 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339295458 rs1158013873 |
789 | S>Y | No |
ClinGen gnomAD |
|
|
rs149415698 CA20541464 |
790 | P>R | No |
ClinGen ESP |
|
| TCGA novel | 791 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 791 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755600491 CA755483 |
793 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339295432 rs1265217620 |
793 | R>H | No |
ClinGen gnomAD |
|
|
rs1490732279 CA339295431 |
794 | D>N | No |
ClinGen TOPMed |
|
|
rs200442780 CA339295423 |
795 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200442780 CA755479 |
795 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765322873 CA755477 |
796 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755476 rs761892216 |
800 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200249341 CA339295365 |
803 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200249341 CA755474 |
803 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs776746778 CA755475 |
803 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1311592248 CA339295362 |
804 | A>P | No |
ClinGen TOPMed |
|
|
rs1569590897 CA339295344 |
806 | V>G | No |
ClinGen Ensembl |
|
|
CA339295347 rs1365376704 |
806 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA755473 rs745842725 |
807 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs968334203 CA20541385 |
810 | E>Q | No |
ClinGen TOPMed |
|
|
rs1217581636 CA339295299 |
813 | C>S | No |
ClinGen TOPMed |
|
|
rs1407846372 CA339295294 |
813 | C>Y | No |
ClinGen gnomAD |
|
|
CA755472 rs377401381 |
816 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20541374 rs770654354 |
817 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs748928423 CA755470 |
818 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs151019955 CA755469 |
818 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs151019955 CA755468 |
818 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339295244 rs1429198718 |
820 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs61776346 CA20541332 |
822 | D>Y | No |
ClinGen Ensembl |
|
|
rs144199933 CA20541323 |
824 | E>G | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 824 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA755463 rs766718999 |
826 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372589635 CA755464 |
826 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA20540363 rs748658137 |
834 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA755435 rs773111340 |
835 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 838 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA755434 rs769763442 |
839 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs777127004 CA20540329 |
843 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs776457680 CA755432 |
848 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA339295044 rs1484836674 |
849 | Q>P | No |
ClinGen TOPMed |
|
|
rs540159412 CA755428 |
853 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540159412 CA755429 |
853 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339295014 rs746484707 |
853 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339294940 rs1569588167 |
861 | P>R | No |
ClinGen Ensembl |
|
|
CA339294933 rs1389299903 |
862 | T>I | No |
ClinGen TOPMed |
|
|
CA339294927 rs1159555962 |
863 | A>V | No |
ClinGen gnomAD |
|
|
CA339294918 rs1269597070 |
865 | P>S | No |
ClinGen gnomAD |
|
|
CA755414 TCGA novel rs763645269 |
866 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA339294898 rs1201791723 |
868 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA339294901 rs1328062260 |
868 | T>P | No |
ClinGen gnomAD |
|
|
rs1225149106 CA339294863 |
873 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339294861 rs1225149106 |
873 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA755412 rs774838348 |
875 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs771631823 COSM117469 CA339294793 |
883 | I>M | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA339294771 rs1181247494 |
886 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 886 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339294769 rs1436265462 |
887 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 887 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 888 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA755410 rs746332833 |
889 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA755408 rs771228093 |
892 | E>A | No |
ClinGen ExAC |
|
|
CA755409 rs774841636 |
892 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA20539991 rs201050225 |
894 | Q>R | No |
ClinGen Ensembl |
|
|
CA20539974 rs997733103 |
898 | A>T | No |
ClinGen Ensembl |
|
|
rs1557449463 CA339294678 |
900 | S>R | No |
ClinGen Ensembl |
|
|
CA755406 rs756259593 |
903 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA755405 rs756259593 |
903 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs755119196 CA755402 |
906 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755403 rs755119196 |
906 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA755404 rs748453831 |
906 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA20538975 rs866547644 |
909 | E>D | No |
ClinGen gnomAD |
|
|
CA339294612 rs1423966591 |
909 | E>K | No |
ClinGen gnomAD |
|
|
CA339294604 rs1305762961 |
910 | K>E | No |
ClinGen TOPMed |
|
|
rs937816972 CA20538950 |
911 | K>E | No |
ClinGen TOPMed |
|
|
CA20538947 rs908946337 |
911 | K>M | No |
ClinGen TOPMed |
|
|
rs1056555905 CA20538939 |
912 | V>A | No |
ClinGen Ensembl |
|
|
CA755372 rs566251521 |
912 | V>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA339294585 rs1181458011 |
913 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA755369 rs765923493 |
915 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 917 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 920 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773803655 CA755367 |
921 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA20538883 rs867317403 |
922 | R>L | No |
ClinGen Ensembl |
|
|
rs1181360313 CA339294523 |
923 | G>D | No |
ClinGen TOPMed |
|
|
CA755365 rs762256166 |
924 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA339294513 rs1370371005 |
925 | G>A | No |
ClinGen gnomAD |
|
|
rs1471768314 CA339294515 |
925 | G>C | No |
ClinGen TOPMed |
|
|
rs1382027619 CA339294508 |
926 | V>A | No |
ClinGen gnomAD |
|
|
CA339294511 rs1254394766 |
926 | V>L | No |
ClinGen TOPMed |
|
|
rs776921512 CA339294501 |
927 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776921512 CA755364 |
927 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20538846 rs1024309598 |
929 | K>R | No |
ClinGen Ensembl |
|
|
rs1288276215 CA339294479 |
931 | R>S | No |
ClinGen TOPMed |
|
|
CA339294468 rs1162313579 |
932 | S>F | No |
ClinGen gnomAD |
|
|
CA339294464 rs1412515926 |
933 | L>P | No |
ClinGen gnomAD |
|
|
CA755361 rs780230575 |
934 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA339294445 rs1488218351 |
936 | V>A | No |
ClinGen gnomAD |
|
|
rs1191819039 CA339294449 |
936 | V>M | No |
ClinGen gnomAD |
|
|
CA339294433 rs1330096918 |
938 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 938 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470459588 CA339294418 |
940 | R>L | No |
ClinGen gnomAD |
|
|
rs1267822663 CA339294391 |
944 | R>H | No |
ClinGen gnomAD |
|
|
rs1302646997 CA339294374 |
947 | L>F | No |
ClinGen gnomAD |
|
|
CA339294367 rs1366378201 |
948 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 950 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339294337 rs1329149499 |
953 | A>S | No |
ClinGen TOPMed |
|
|
rs1323468202 CA339294325 |
955 | S>A | No |
ClinGen gnomAD |
|
|
rs765837114 CA755352 |
957 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs897739081 CA20538730 |
957 | R>L | No |
ClinGen Ensembl |
|
|
rs765837114 CA755353 |
957 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1391532256 CA339294294 |
960 | S>T | No |
ClinGen TOPMed |
|
|
CA339294277 rs1176784068 |
962 | T>I | No |
ClinGen gnomAD |
|
|
rs1193736839 CA339294269 |
963 | E>D | No |
ClinGen gnomAD |
|
|
CA339294263 rs1432656542 |
964 | S>N | No |
ClinGen gnomAD |
|
|
CA339294256 rs1246036008 |
965 | A>G | No |
ClinGen gnomAD |
|
|
CA339294236 rs1423077546 |
968 | I>T | No |
ClinGen gnomAD |
|
|
rs1036264934 CA20538709 |
968 | I>V | No |
ClinGen Ensembl |
|
|
CA339294205 rs1190597324 |
972 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 973 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777028597 CA755347 |
974 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 975 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484466359 CA339294181 |
976 | Q>* | No |
ClinGen gnomAD |
|
|
CA339294163 rs1569585167 |
978 | R>S | No |
ClinGen Ensembl |
No associated diseases with O95886
1 regional properties for O95886
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 6 - 165 | IPR005225 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cholinergic synapse | A synapse that uses acetylcholine as a neurotransmitter. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| postsynaptic specialization | A network of proteins within and adjacent to the postsynaptic membrane. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| amyloid-beta binding | Binding to an amyloid-beta peptide/protein. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| modification of synaptic structure | Any process that modifies the structure/morphology of a synapse. |
| regulation of postsynaptic neurotransmitter receptor activity | Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. |
| signaling | The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRGYHGDRGS | HPRPARFADQ | QHMDVGPAAR | APYLLGSREA | FSTEPRFCAP | RAGLGHISPE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GPLSLSEGPS | VGPEGGPAGA | GVGGGSSTFP | RMYPGQGPFD | TCEDCVGHPQ | GKGAPRLPPT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLDQFEKQLP | VQQDGFHTLP | YQRGPAGAGP | GPAPGTGTAP | EPRSESPSRI | RHLVHSVQKL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FAKSHSLEAP | GKRDYNGPKA | EGRGGSGGDS | YPGPGSGGPH | TSHHHHHHHH | HHHHQSRHGK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RSKSKDRKGD | GRHQAKSTGW | WSSDDNLDSD | SGFLAGGRPP | GEPGGPFCLE | GPDGSYRDLS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FKGRSGGSEG | RCLACTGMSM | SLDGQSVKRS | AWHTMMVSQG | RDGYPGAGPG | KGLLGPETKA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KARTYHYLQV | PQDDWGGYPT | GGKDGEIPCR | RMRSGSYIKA | MGDEESGDSD | GSPKTSPKAV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ARRFTTRRSS | SVDQARINCC | VPPRIHPRSS | IPGYSRSLTT | GQLSDELNQQ | LEAVCGSVFG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELESQAVDAL | DLPGCFRMRS | HSYLRAIQAG | CSQDDDCLPL | LATPAAVSGR | PGSSFNFRKA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PPPIPPGSQA | PPRISITAQS | STDSAHESFT | AAEGPARRCS | SADGLDGPAM | GARTLELAPV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PPRASPKPPT | LIIKTIPGRE | ELRSLARQRK | WRPSIGVQVE | TISDSDTENR | SRREFHSIGV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QVEEDKRRAR | FKRSNSVTAG | VQADLELEGL | AGLATVATED | KALQFGRSFQ | RHASEPQPGP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RAPTYSVFRT | VHTQGQWAYR | EGYPLPYEPP | ATDGSPGPAP | APTPGPGAGR | RDSWIERGSR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SLPDSGRASP | CPRDGEWFIK | MLRAEVEKLE | HWCQQMEREA | EDYELPEEIL | EKIRSAVGST |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QLLLSQKVQQ | FFRLCQQSMD | PTAFPVPTFQ | DLAGFWDLLQ | LSIEDVTLKF | LELQQLKANS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| WKLLEPKEEK | KVPPPIPKKP | LRGRGVPVKE | RSLDSVDRQR | QEARKRLLAA | KRAASFRHSS |
| 970 | |||||
| ATESADSIEI | YIPEAQTRL |