Q9HCP6
PR
Gene name |
HHATL (C3orf3, GUP1, KIAA1173) |
Protein name |
Protein-cysteine N-palmitoyltransferase HHAT-like protein |
Names |
Glycerol uptake/transporter homolog, Hedgehog acyltransferase-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57467 |
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 Q9HCP6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HCP6-F1 | Predicted | AlphaFoldDB |
469 variants for Q9HCP6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2337689 rs780006207 |
2 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1423295093 CA352261177 |
3 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2337686 rs764951827 |
6 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA352261096 rs1253478900 |
7 | L>S | No |
ClinGen gnomAD |
|
|
rs756864904 CA2337685 |
8 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150423655 CA2337682 |
9 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2337683 rs150423655 |
9 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768200407 CA2337680 |
10 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1278532011 CA352261039 |
11 | E>K | No |
ClinGen gnomAD |
|
|
rs375313078 CA2337679 |
13 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352260982 rs1310754676 |
13 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352260948 rs866609622 |
15 | Y>H | No |
ClinGen gnomAD |
|
|
rs866609622 CA74164692 |
15 | Y>N | No |
ClinGen gnomAD |
|
|
CA352260895 rs1463866036 |
18 | V>M | No |
ClinGen gnomAD |
|
|
CA2337678 rs774713185 |
20 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2337676 rs543911013 |
21 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352260786 rs1167597016 |
22 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352260785 rs1167597016 |
22 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773355487 CA2337675 |
23 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs865825338 CA74164684 |
24 | A>S | No |
ClinGen Ensembl |
|
|
CA2337674 rs769832444 |
25 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 26 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779951271 CA2337672 |
28 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs142208013 CA2337673 |
28 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1257615011 CA352260630 |
30 | L>F | No |
ClinGen gnomAD |
|
|
CA2337671 rs758271148 |
30 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1173334757 CA352260605 |
31 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA352260577 rs1374350255 |
33 | A>T | No |
ClinGen TOPMed |
|
|
CA352260502 rs376943133 |
35 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1368664748 CA352260486 |
36 | D>N | No |
ClinGen TOPMed |
|
|
CA352260231 rs1310598439 |
37 | G>A | No |
ClinGen gnomAD |
|
|
rs369606015 CA2337653 |
38 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369606015 CA74163816 |
38 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352260214 rs1323244349 |
39 | H>N | No |
ClinGen gnomAD |
|
|
rs768752357 CA2337652 |
39 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA74163811 rs992387116 |
41 | K>R | No |
ClinGen Ensembl |
|
|
rs1332488924 CA352260148 |
42 | A>G | No |
ClinGen TOPMed |
|
|
rs1367050954 CA352260152 |
42 | A>S | No |
ClinGen gnomAD |
|
|
rs757215327 CA74163798 |
44 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs865821800 CA74163810 |
44 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200373562 CA2337650 |
48 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3781628 CA2337649 rs770759404 |
48 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1452475784 CA352260028 |
49 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs371945799 CA2337648 |
49 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777727269 CA352260011 |
50 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337647 rs777727269 |
50 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337646 rs755764290 |
52 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1488014963 CA352259952 |
53 | Y>* | No |
ClinGen gnomAD |
|
|
CA2337645 rs572960980 |
54 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1286775845 CA352259948 |
54 | I>V | No |
ClinGen gnomAD |
|
|
rs1343482183 CA352259922 |
55 | G>D | No |
ClinGen gnomAD |
|
|
CA352259917 rs1343482183 |
55 | G>V | No |
ClinGen gnomAD |
|
|
rs771353911 CA2337643 |
56 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337642 rs771353911 |
56 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337644 rs780802322 |
56 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1021038584 CA74163701 |
58 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747437333 CA2337640 |
58 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955436266 CA74163122 |
61 | A>V | No |
ClinGen Ensembl |
|
|
rs1474380363 CA352258456 |
62 | D>A | No |
ClinGen TOPMed |
|
|
rs1161454764 CA352258440 |
62 | D>E | No |
ClinGen TOPMed |
|
|
CA352258409 rs373193288 |
63 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274641589 CA352258380 |
64 | E>A | No |
ClinGen gnomAD |
|
|
CA2337618 rs376447387 |
64 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1575242660 CA352258302 |
66 | V>G | No |
ClinGen Ensembl |
|
|
CA2337616 rs369602561 |
69 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559624856 CA352258202 |
70 | T>A | No |
ClinGen Ensembl |
|
|
rs1284203135 CA352258185 |
70 | T>I | No |
ClinGen gnomAD |
|
|
rs1553683467 CA2337613 |
72 | F>S | No |
ClinGen Ensembl |
|
|
CA2337611 COSM1044773 rs202051255 |
73 | R>C | endometrium Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs145311353 COSM240108 CA2337610 |
73 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2337612 rs202051255 |
73 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1447223224 CA352258119 |
74 | N>H | No |
ClinGen gnomAD |
|
|
CA352258103 rs1281015241 |
74 | N>I | No |
ClinGen gnomAD |
|
|
rs769680660 CA2337607 |
75 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762289236 CA2337608 |
75 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2337605 rs776409096 |
76 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs768134252 CA2337604 |
78 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1235677 CA2337603 rs145469527 |
79 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779389328 CA2337602 |
80 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458507430 CA352257950 |
81 | S>T | No |
ClinGen gnomAD |
|
|
CA2337600 rs746347440 |
82 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA352257931 rs1349975899 |
84 | V>M | No |
ClinGen TOPMed |
|
|
rs757608632 CA2337597 |
85 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs146384822 CA2337596 |
87 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352257844 rs1351488041 |
89 | L>F | No |
ClinGen gnomAD |
|
|
rs1013914639 CA74162976 |
90 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA74162967 rs61739734 |
91 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2337594 rs61739734 |
91 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1375264017 CA352257768 |
93 | V>I | No |
ClinGen gnomAD |
|
|
rs752986852 CA2337593 |
94 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1349509367 CA352257721 |
96 | K>E | No |
ClinGen gnomAD |
|
|
CA74162716 rs748605159 |
97 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337558 rs748605159 |
97 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337557 rs113329939 |
98 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1239063 CA2337556 rs200755991 |
98 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs751859604 CA2337555 |
99 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs780231964 CA2337554 |
100 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs758597752 CA2337553 |
101 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA352257556 rs1044990129 |
101 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA74162648 rs1044990129 |
101 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs148287985 CA2337551 |
106 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760371078 CA2337550 |
107 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1316350365 CA352257470 |
108 | L>S | No |
ClinGen gnomAD |
|
|
CA352257464 rs1575241429 |
109 | A>S | No |
ClinGen Ensembl |
|
|
CA352257440 rs1213146853 |
112 | G>V | No |
ClinGen TOPMed |
|
|
rs1309340080 CA352257434 |
113 | T>I | No |
ClinGen gnomAD |
|
|
CA352257427 rs1194336818 |
114 | M>I | No |
ClinGen TOPMed |
|
|
rs1449290768 CA352257430 |
114 | M>T | No |
ClinGen TOPMed |
|
|
rs1446890329 CA352257432 |
114 | M>V | No |
ClinGen gnomAD |
|
|
rs1396023940 CA352257415 |
116 | P>L | No |
ClinGen gnomAD |
|
|
rs1559624292 CA352257416 |
116 | P>S | No |
ClinGen Ensembl |
|
|
CA352257408 rs1575241299 |
117 | W>S | No |
ClinGen Ensembl |
|
|
rs1384182888 CA352257399 |
118 | Y>C | No |
ClinGen gnomAD |
|
|
CA2337547 rs767335218 |
119 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001272019 CA74162593 |
119 | L>P | No |
ClinGen TOPMed |
|
|
CA2337546 rs371403031 |
120 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774042851 CA2337544 |
123 | L>R | No |
ClinGen ExAC TOPMed |
|
|
rs1463135254 CA352257371 |
124 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2337542 rs770398484 |
126 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2337541 rs762593354 |
126 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1559624226 CA352257350 |
127 | V>A | No |
ClinGen Ensembl |
|
|
rs918656116 CA74162543 |
128 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs918656116 CA352257343 |
128 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352257330 rs201075050 |
130 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs527766303 CA2337539 |
130 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781653475 CA2337537 |
132 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769163062 CA2337536 |
133 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337534 rs202164691 |
134 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778867570 CA2337531 |
136 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs752601759 CA2337529 |
137 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337530 rs756042074 |
137 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052695693 CA74162469 |
138 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2337528 rs549224504 |
138 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352257283 rs1207446967 |
139 | W>* | No |
ClinGen gnomAD |
|
|
rs1292473203 CA352257280 |
139 | W>* | No |
ClinGen gnomAD |
|
|
CA2337526 rs751210098 |
140 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766078844 CA2337524 |
141 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2337523 rs142060437 |
142 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352257257 rs1421152032 |
143 | G>A | No |
ClinGen gnomAD |
|
|
CA352257259 rs1183723004 |
143 | G>R | No |
ClinGen gnomAD |
|
|
CA352257260 rs1183723004 |
143 | G>S | No |
ClinGen gnomAD |
|
|
CA2337522 rs772710829 |
144 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1221958596 CA352257246 |
145 | G>D | No |
ClinGen gnomAD |
|
|
CA352257228 rs1293952554 |
148 | S>C | No |
ClinGen gnomAD |
|
|
CA352257217 rs1228097851 |
149 | L>V | No |
ClinGen gnomAD |
|
|
CA352257206 COSM1209642 rs1215099283 |
150 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA352257139 rs1354618843 |
153 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA352257117 rs1280573904 |
154 | M>I | No |
ClinGen gnomAD |
|
|
rs777324800 CA352257094 CA352257096 |
155 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337520 rs762331583 |
155 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1282280530 CA352257086 |
156 | P>A | No |
ClinGen gnomAD |
|
|
CA352257079 rs769107852 |
156 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs769107852 CA2337518 |
156 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA352257015 rs1295801468 |
160 | W>S | No |
ClinGen gnomAD |
|
|
CA74162374 rs868428807 |
161 | Q>* | No |
ClinGen Ensembl |
|
|
rs746004277 CA74162369 |
161 | Q>H | No |
ClinGen Ensembl |
|
|
CA352256805 rs1441179285 |
162 | S>N | No |
ClinGen gnomAD |
|
|
CA2337493 rs749428104 |
163 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352256757 rs1204682834 |
164 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352256737 rs1255786986 |
164 | F>L | No |
ClinGen gnomAD |
|
|
rs1277153776 CA352256680 |
166 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1339481996 CA352256665 COSM71055 |
167 | G>D | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2337491 rs754844693 |
167 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111524014 CA74162052 |
168 | T>S | No |
ClinGen Ensembl |
|
|
CA2337490 rs746978470 |
171 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA352256465 rs1445803068 |
175 | L>P | No |
ClinGen gnomAD |
|
|
CA352256411 rs1337193757 |
177 | H>Q | No |
ClinGen gnomAD |
|
|
CA2337489 rs779847922 |
177 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397784969 CA352256390 |
178 | G>E | No |
ClinGen gnomAD |
|
|
rs1454354186 CA352256401 |
178 | G>R | No |
ClinGen gnomAD |
|
|
CA352256374 rs1327109709 |
179 | G>A | No |
ClinGen gnomAD |
|
|
rs1327109709 CA352256378 |
179 | G>D | No |
ClinGen gnomAD |
|
|
CA352256366 rs1341010328 |
180 | S>G | No |
ClinGen gnomAD |
|
|
CA2337488 rs758176064 |
180 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337487 rs143853080 |
181 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778493564 CA2337486 |
182 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs756810423 CA2337485 |
183 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs533680978 CA2337484 |
184 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2337483 rs377213413 |
186 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1566769 CA2337482 rs761217421 |
186 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA74161987 rs17852072 |
188 | T>A | No |
ClinGen Ensembl |
|
|
rs753308452 CA2337481 |
188 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA352256174 rs753308452 |
188 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 189 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352256113 rs1438029899 |
190 | F>L | No |
ClinGen gnomAD |
|
|
CA2337480 rs767896596 |
190 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA352256072 rs1226086862 |
192 | L>P | No |
ClinGen gnomAD |
|
|
CA2337478 rs774621128 |
196 | A>P | No |
ClinGen ExAC |
|
|
rs763168412 CA2337476 |
197 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2337477 rs771001720 |
197 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337474 rs769883385 |
198 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352255952 rs1331035546 |
199 | D>A | No |
ClinGen gnomAD |
|
|
CA2337473 rs746925547 |
199 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs1355307765 CA352255959 |
199 | D>H | No |
ClinGen gnomAD |
|
|
rs191640838 CA2337472 |
200 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191640838 CA2337471 |
200 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527729294 CA2337470 |
200 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1164773105 CA352255944 |
201 | H>L | No |
ClinGen gnomAD |
|
|
CA352255943 rs1164773105 |
201 | H>R | No |
ClinGen gnomAD |
|
|
rs778780280 CA2337469 |
203 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74161886 rs759621241 |
203 | S>Y | No |
ClinGen Ensembl |
|
|
rs1176978890 CA352255847 |
207 | L>V | No |
ClinGen gnomAD |
|
|
CA74161869 rs139982214 |
211 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753569865 CA2337467 |
211 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3696089 rs139982214 CA2337468 |
211 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA352255686 rs1575238742 |
213 | Y>* | No |
ClinGen Ensembl |
|
|
rs753246426 CA2337463 |
217 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351414530 CA352255534 |
218 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352255487 rs1559623198 |
220 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 221 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352255460 rs1224112366 |
221 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767968453 CA2337460 |
222 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2337458 rs372735907 |
223 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760102310 CA2337459 |
223 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs763111123 CA2337456 |
226 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs769832528 CA2337454 |
227 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769832528 CA2337455 |
227 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337453 rs562001932 |
227 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA352255365 rs1401671435 |
228 | F>S | No |
ClinGen gnomAD |
|
|
rs1196840351 CA352255354 |
229 | H>R | No |
ClinGen gnomAD |
|
|
rs776663186 CA2337451 |
229 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1034856087 CA352255170 |
232 | V>L | No |
ClinGen TOPMed |
|
|
rs1034856087 CA74161147 |
232 | V>M | No |
ClinGen TOPMed |
|
|
rs375380781 CA352255125 |
233 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352255095 rs1323153515 |
235 | V>M | No |
ClinGen gnomAD |
|
|
CA2337427 rs769504306 |
237 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs540064874 CA2337424 |
240 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540064874 CA2337423 |
240 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2337422 rs747441139 |
240 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143127558 CA2337420 |
241 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288816323 CA352254924 |
243 | E>V | No |
ClinGen gnomAD |
|
|
rs1407252586 CA352254877 |
245 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA74161060 rs1017278045 |
247 | I>T | No |
ClinGen TOPMed |
|
|
CA2337418 rs765587691 |
248 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337417 rs138073107 |
248 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754110706 CA2337416 |
249 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA74161025 rs140686107 CA2337414 |
255 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2337413 rs140686107 |
255 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2337412 rs766364849 |
257 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762988939 CA2337411 |
258 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs61748826 CA2337410 |
258 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762988939 CA352254648 |
258 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3427595 rs768046128 CA2337405 |
261 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA2337404 rs746586026 COSM281693 |
262 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs927138026 CA74160985 |
263 | I>N | No |
ClinGen Ensembl |
|
| TCGA novel | 265 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403192264 CA352254511 |
267 | F>Y | No |
ClinGen TOPMed |
|
|
CA352254499 rs1344348880 |
268 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs373120380 CA2337402 |
270 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146426905 CA2337401 |
271 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2337400 rs146426905 |
271 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1575237023 CA352254480 |
272 | T>P | No |
ClinGen Ensembl |
|
|
CA2337398 rs757683620 |
274 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74160920 rs568465929 |
276 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs568465929 CA2337395 |
276 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2337394 rs143213335 |
279 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs112397807 CA352254429 |
279 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143213335 CA352254433 |
279 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2337392 rs150067378 |
280 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2337391 rs762936433 |
281 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370979838 CA2337390 |
282 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs975845134 CA74160868 |
282 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2337389 rs370979838 |
282 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867038504 CA74160862 |
284 | P>S | No |
ClinGen Ensembl |
|
|
CA352254399 rs1417610055 |
285 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2337388 rs761733462 |
286 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1196567259 CA352254381 |
287 | A>V | No |
ClinGen gnomAD |
|
|
rs1484080917 CA352254378 |
288 | L>F | No |
ClinGen gnomAD |
|
|
rs990445898 CA74160860 |
288 | L>R | No |
ClinGen TOPMed |
|
|
rs768297166 CA74160851 |
289 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337386 rs768297166 |
289 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191679592 CA352254352 |
291 | L>I | No |
ClinGen gnomAD |
|
|
rs554327834 CA2337357 |
292 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747026863 CA2337356 |
293 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 294 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352254279 rs1210947153 |
295 | N>K | No |
ClinGen gnomAD |
|
|
CA2337355 rs780001816 |
296 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs866475018 CA74160244 |
297 | V>A | No |
ClinGen Ensembl |
|
|
CA352254263 rs1262155786 |
297 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs367574005 CA2337354 |
300 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267887124 CA352254162 |
302 | K>T | No |
ClinGen gnomAD |
|
|
rs753737823 CA2337353 |
303 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337349 rs202043526 |
305 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352298374 rs1336324404 |
308 | G>D | No |
ClinGen gnomAD |
|
|
CA74199535 rs868227218 |
308 | G>S | No |
ClinGen Ensembl |
|
|
rs1415195702 CA352298370 |
309 | V>F | No |
ClinGen gnomAD |
|
|
rs1200616264 CA352298360 |
310 | V>F | No |
ClinGen TOPMed |
|
|
rs1475397539 CA352298323 |
314 | A>S | No |
ClinGen gnomAD |
|
|
rs773875488 CA2337347 |
315 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1457742804 CA352298314 |
315 | C>Y | No |
ClinGen TOPMed |
|
|
rs1242859213 CA352298294 |
317 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1203973135 CA352298290 |
317 | D>E | No |
ClinGen gnomAD |
|
|
CA2337346 rs763496188 |
317 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337345 rs763496188 |
317 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337344 rs773633654 |
318 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1575235111 CA352298284 |
318 | H>P | No |
ClinGen Ensembl |
|
|
rs770281277 CA2337343 |
323 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 323 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2337341 rs777146952 |
324 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352298222 rs115328735 |
324 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2337342 rs115328735 |
324 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768931976 CA2337340 |
326 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA352298202 rs1245260446 |
326 | K>R | No |
ClinGen gnomAD |
|
|
CA2337339 rs561740165 |
327 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381783321 CA352298185 |
328 | I>V | No |
ClinGen gnomAD |
|
|
CA352298172 rs1314669746 |
329 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2337336 rs749215110 |
330 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337337 rs749215110 |
330 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752426856 CA352298143 |
332 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2337331 rs754576709 |
333 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2337332 rs767335152 |
333 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2337330 rs17852074 |
335 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA74199437 rs17852074 |
335 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2337329 rs765883293 |
335 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2337327 rs773754543 |
337 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 338 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759834592 CA2337299 |
338 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA74199302 rs943962543 |
340 | D>E | No |
ClinGen TOPMed |
|
|
CA352298021 rs1479826553 |
340 | D>G | No |
ClinGen gnomAD |
|
|
rs137855573 CA2337298 |
341 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs558686561 CA2337297 |
341 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352297982 rs555576124 |
344 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968766519 CA74199281 |
345 | D>E | No |
ClinGen TOPMed |
|
|
rs200803828 CA2337295 |
346 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352297939 rs1466047392 |
348 | C>S | No |
ClinGen gnomAD |
|
|
rs768408230 CA2337277 |
349 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2337276 rs771076778 |
350 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA352297541 rs146690323 |
352 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2337275 rs146690323 |
352 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246121182 CA352297534 |
353 | N>D | No |
ClinGen TOPMed |
|
|
rs151093970 CA2337272 |
353 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61999306 CA2337274 |
353 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352297522 rs1169159633 |
354 | H>Y | No |
ClinGen gnomAD |
|
|
CA2337271 rs756812666 |
356 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337270 rs369295529 |
356 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1575227467 CA352297469 |
359 | H>L | No |
ClinGen Ensembl |
|
|
CA2337269 rs777375802 |
360 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2337267 rs374515259 |
361 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767747152 CA2337266 |
361 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751770418 CA2337264 |
362 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1575227378 CA352297434 |
363 | I>T | No |
ClinGen Ensembl |
|
|
rs1271093757 CA352297424 |
364 | P>L | No |
ClinGen TOPMed |
|
|
CA2337263 rs766533636 |
365 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA352297406 rs1575227319 |
366 | L>R | No |
ClinGen Ensembl |
|
|
CA352297401 rs1290101130 |
367 | A>E | No |
ClinGen gnomAD |
|
|
rs1575227301 CA352297402 |
367 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 367 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763164212 CA2337262 |
368 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337261 rs773233374 |
370 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1341401312 CA352297377 |
370 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2337260 rs765377733 |
373 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs149595115 CA352297343 |
374 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2337259 rs149595115 |
374 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA352297334 rs1411629903 |
375 | I>V | No |
ClinGen gnomAD |
|
|
rs771758332 CA2337257 |
376 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337255 rs774299417 |
380 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA352297277 rs1369913403 |
381 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352297275 rs1369913403 |
381 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1167245602 CA352297266 |
382 | P>S | No |
ClinGen gnomAD |
|
|
rs141757802 CA2337253 |
384 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141757802 CA2337252 |
384 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484048002 CA352297232 |
385 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2337251 rs138118773 |
385 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234657322 CA352297204 |
388 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352297167 rs1357509240 |
391 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 394 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2337250 rs748602425 |
395 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs781753838 CA2337249 |
397 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473150995 CA352297099 |
398 | N>K | No |
ClinGen TOPMed |
|
|
CA352297085 rs1162685153 |
400 | E>K | No |
ClinGen TOPMed |
|
|
rs755491743 CA2337248 |
402 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs11079 CA352297050 |
403 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs11079 VAR_014947 CA2337247 |
403 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA352297018 rs1319568322 |
405 | K>N | No |
ClinGen TOPMed |
|
|
rs780425730 CA2337246 |
408 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318084027 CA352296978 |
410 | G>E | No |
ClinGen TOPMed |
|
|
CA352296972 rs1559618287 |
411 | P>T | No |
ClinGen Ensembl |
|
|
CA2337244 rs758563833 |
413 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs199499695 CA2337243 |
414 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765197293 CA2337242 |
414 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765197293 CA352296943 COSM1044769 |
414 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA352296936 rs1411531343 |
415 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs913859313 CA74197765 |
415 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1196188302 CA352296931 |
416 | E>K | No |
ClinGen Ensembl |
|
|
rs751587988 CA2337216 |
417 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352296878 rs1268347686 |
417 | A>S | No |
ClinGen gnomAD |
|
|
CA352296882 rs1268347686 |
417 | A>T | No |
ClinGen gnomAD |
|
|
rs557543678 CA2337215 |
419 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352296855 rs1437602759 |
420 | S>L | No |
ClinGen gnomAD |
|
|
CA74197577 rs992460162 |
420 | S>P | No |
ClinGen TOPMed |
|
|
CA2337213 rs772900005 |
422 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1333699751 CA352296838 |
422 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA352296836 rs1435631682 |
422 | Q>P | No |
ClinGen TOPMed |
|
|
rs372425768 CA352296809 |
424 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372425768 CA2337212 |
424 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372425768 CA352296811 |
424 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776066700 CA352296805 |
425 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337210 rs776066700 |
425 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768201980 CA2337209 |
425 | R>H | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200263986 CA2337207 |
428 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2337208 rs747479497 |
428 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443653544 CA352296726 |
433 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1322843160 CA352296717 |
434 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1208547863 CA352296723 |
434 | M>V | No |
ClinGen TOPMed |
|
|
CA352296709 rs1463237384 |
435 | N>D | No |
ClinGen TOPMed |
|
|
CA352296677 rs1270253147 |
438 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 441 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746325431 CA74197572 |
441 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 441 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2337204 rs779148223 |
443 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA352296611 rs1243531895 |
444 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1414146946 CA352296601 |
445 | V>G | No |
ClinGen TOPMed |
|
|
CA2337203 rs757458637 |
446 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2337202 rs763778428 |
447 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352296578 rs1386229224 |
448 | N>S | No |
ClinGen TOPMed |
|
|
CA352296544 rs1232975735 |
451 | K>* | No |
ClinGen Ensembl |
|
|
CA2337200 rs756329889 |
454 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150455507 CA2337197 |
458 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147953207 CA2337196 |
458 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150455507 CA2337198 |
458 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA74197530 rs1056662803 |
459 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2337195 rs764961715 |
459 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA2337194 rs764961715 |
459 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA352296461 rs1056662803 |
459 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352296428 COSM1309128 rs1228351934 |
462 | L>F | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs765048698 CA2337170 |
465 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA352295881 rs1559617197 |
466 | P>S | No |
ClinGen Ensembl |
|
|
rs757062555 CA2337169 |
467 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2337168 rs753472125 |
469 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1575224738 CA352295852 |
471 | S>A | No |
ClinGen Ensembl |
|
|
rs763678611 CA2337167 |
471 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2337166 rs142328947 |
472 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352295848 rs1575224705 |
472 | I>V | No |
ClinGen Ensembl |
|
|
CA2337165 rs570352216 |
475 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352295820 rs1390292888 |
476 | T>I | No |
ClinGen gnomAD |
|
|
CA352295822 rs1390292888 |
476 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 477 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173305647 CA352295815 |
477 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2337163 rs760059241 |
479 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs373523075 CA2337160 |
480 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74197380 COSM215907 rs918851737 |
480 | V>I | kidney Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA352295788 rs1188237221 |
481 | Q>H | No |
ClinGen gnomAD |
|
|
rs1170729593 CA352295769 |
484 | K>N | No |
ClinGen TOPMed |
|
|
rs1465486362 CA352295767 |
485 | E>K | No |
ClinGen gnomAD |
|
|
rs144753590 CA2337159 |
486 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1291707 rs539401061 CA2337158 |
486 | R>H | Variant assessed as Somatic; 4.619e-05 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2337156 COSM244898 rs575198097 |
488 | R>* | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs189480013 CA2337155 |
488 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1575224470 CA352295742 |
489 | T>S | No |
ClinGen Ensembl |
|
|
CA352295731 rs1297317132 |
491 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 493 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2337153 rs778769834 |
494 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044015362 CA352295703 |
495 | E>A | No |
ClinGen gnomAD |
|
|
CA74197348 rs1044015362 |
495 | E>G | No |
ClinGen gnomAD |
|
|
CA74197356 rs905411442 |
495 | E>K | No |
ClinGen Ensembl |
|
|
rs757231489 CA2337152 |
496 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA74197343 rs547538547 |
497 | K>R | No |
ClinGen 1000Genomes |
|
|
rs1015931378 CA74197342 |
499 | D>G | No |
ClinGen TOPMed |
|
|
CA2337150 rs753562575 |
501 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA2337149 rs369171647 |
502 | K>N | No |
ClinGen ESP ExAC |
|
| TCGA novel | 502 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2337148 rs199578684 |
503 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2337146 rs752388281 |
503 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA2337143 rs776590355 |
504 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs867178311 CA74197329 |
504 | E>K | No |
ClinGen Ensembl |
|
|
CA74197326 rs1052477504 |
505 | E>W | No |
ClinGen Ensembl |
No associated diseases with Q9HCP6
No regional properties for Q9HCP6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9HCP6 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| acyltransferase activity | Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of N-terminal protein palmitoylation | Any process that decreases the rate frequency or extent of the covalent attachment of a palmitoyl group to the N-terminal amino acid residue of a protein. |
2 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q08929 | GUP2 | Membrane-bound O-acyltransferase GUP2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P53154 | GUP1 | Membrane-bound O-acyltransferase GUP1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGIKTALPAA | ELGLYSLVLS | GALAYAGRGL | LEASQDGAHR | KAFRESVRPG | WEYIGRKMDV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ADFEWVMWFT | SFRNVIIFAL | SGHVLFAKLC | TMVAPKLRSW | MYAVYGALAV | MGTMGPWYLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLLGHCVGLY | VASLLGQPWL | CLGLGLASLA | SFKMDPLISW | QSGFVTGTFD | LQEVLFHGGS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SFTVLRCTSF | ALESCAHPDR | HYSLADLLKY | NFYLPFFFFG | PIMTFDRFHA | QVSQVEPVRR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EGELWHIRAQ | AGLSVVAIMA | VDIFFHFFYI | LTIPSDLKFA | NRLPDSALAG | LAYSNLVYDW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VKAAVLFGVV | NTVACLDHLD | PPQPPKCITA | LYVFAETHFD | RGINDWLCKY | VYNHIGGEHS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AVIPELAATV | ATFAITTLWL | GPCDIVYLWS | FLNCFGLNFE | LWMQKLAEWG | PLARIEASLS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VQMSRRVRAL | FGAMNFWAII | MYNLVSLNSL | KFTELVARRL | LLTGFPQTTL | SILFVTYCGV |
| 490 | 500 | ||||
| QLVKERERTL | ALEEEQKQDK | EKPE |