Q9BQ67
Gene name |
GRWD1 (GRWD, KIAA1942, WDR28) |
Protein name |
Glutamate-rich WD repeat-containing protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83743 |
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 Q9BQ67
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BQ67-F1 | Predicted | AlphaFoldDB |
453 variants for Q9BQ67
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs147327994 RCV000149314 COSM1179635 CA174767 |
198 | R>Q | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9550891 rs767003669 |
2 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA406681100 rs943455639 |
3 | A>G | No |
ClinGen gnomAD |
|
|
CA9550892 rs752396659 |
3 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406681091 rs752396659 |
3 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309301417 rs943455639 |
3 | A>V | No |
ClinGen gnomAD |
|
|
rs760213954 CA9550893 |
4 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9550894 rs763762231 |
4 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA406681116 rs1195118835 |
5 | K>E | No |
ClinGen gnomAD |
|
|
rs1474315735 CA406681151 |
7 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1474315735 CA406681149 |
7 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA406681145 rs757018412 |
7 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374579517 CA9550898 |
8 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547531552 CA9550901 |
9 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547531552 CA9550902 |
9 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406681183 rs1490501860 |
10 | T>M | No |
ClinGen TOPMed |
|
|
CA406681196 rs1415849526 |
11 | C>Y | No |
ClinGen gnomAD |
|
|
CA406681215 rs771325293 CA9550906 |
12 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406681211 rs1312635702 |
12 | E>G | No |
ClinGen gnomAD |
|
|
CA406681223 rs1231009036 |
13 | T>N | No |
ClinGen gnomAD |
|
|
rs1226033214 CA406681234 |
14 | G>E | No |
ClinGen gnomAD |
|
|
CA406681230 rs1307519290 |
14 | G>R | No |
ClinGen gnomAD |
|
|
CA9550908 rs760015830 |
15 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251374362 CA406681266 |
16 | P>H | No |
ClinGen TOPMed |
|
|
rs1256458718 CA406681261 |
16 | P>S | No |
ClinGen gnomAD |
|
|
CA406681258 rs1256458718 |
16 | P>T | No |
ClinGen gnomAD |
|
|
rs1188454248 CA406681290 |
17 | M>I | No |
ClinGen gnomAD |
|
|
rs1484831450 CA406681284 |
17 | M>T | No |
ClinGen gnomAD |
|
|
CA9550909 rs144932185 |
19 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406681338 rs887047041 |
19 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs887047041 CA309301485 |
19 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1168415121 CA406681350 |
20 | E>K | No |
ClinGen gnomAD |
|
|
CA406681370 rs1601001067 |
21 | S>A | No |
ClinGen Ensembl |
|
|
rs775013075 CA9550910 |
21 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1435817685 CA406681391 |
22 | G>D | No |
ClinGen gnomAD |
|
|
CA406681382 rs1225694085 |
22 | G>S | No |
ClinGen TOPMed |
|
|
rs776279416 CA9550913 |
23 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9550912 rs763665732 |
23 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385582015 CA406681423 |
24 | T>A | No |
ClinGen TOPMed |
|
|
rs1398814153 CA406681442 |
25 | S>N | No |
ClinGen TOPMed |
|
|
rs1005600134 CA309301507 |
26 | S>F | No |
ClinGen gnomAD |
|
|
rs1340842211 CA406681470 |
26 | S>P | No |
ClinGen gnomAD |
|
|
rs761578462 CA9550914 |
27 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9550917 rs758376977 |
28 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406681522 rs758376977 |
28 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750432167 CA9550916 |
28 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs766374937 CA9550918 |
29 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766374937 CA406681539 |
29 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406681559 rs1421702000 |
30 | A>V | No |
ClinGen TOPMed |
|
|
rs1345526986 CA406681586 |
32 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9550919 rs752842457 |
33 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1242978952 CA406681604 |
33 | Y>H | No |
ClinGen gnomAD |
|
|
rs752842457 CA309301524 |
33 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1439455288 CA406681657 |
36 | G>A | No |
ClinGen TOPMed |
|
|
CA309301538 rs78848583 |
37 | R>G | No |
ClinGen gnomAD |
|
|
rs749514627 CA9550922 |
37 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406681664 rs78848583 |
37 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402850141 CA406681682 |
38 | G>V | No |
ClinGen gnomAD |
|
|
rs1345479416 CA406681704 |
39 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1317992498 CA406681708 |
40 | P>A | No |
ClinGen gnomAD |
|
|
CA406681724 rs1372478293 |
40 | P>L | No |
ClinGen gnomAD |
|
|
rs558393336 CA309301545 |
42 | R>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1225307953 CA406681764 |
43 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA406681757 rs1225307953 |
43 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs779219427 CA9550924 |
44 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9550923 rs757613737 |
44 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs772590614 CA406681858 |
48 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772590614 CA9550926 |
48 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1395022 rs1231757801 CA406681893 |
49 | M>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA406681947 rs1199624471 |
51 | E>K | No |
ClinGen gnomAD |
|
|
rs775917486 CA9550927 |
53 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1469004949 CA406681999 |
53 | A>T | No |
ClinGen gnomAD |
|
|
CA406682030 rs1251754873 |
54 | Y>F | No |
ClinGen gnomAD |
|
|
rs1471435655 CA406682069 |
56 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9550928 rs746505181 |
57 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406682110 rs1012431716 |
58 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs768207196 CA9550929 |
58 | H>R | No |
ClinGen ExAC |
|
|
rs1012431716 CA309301594 |
58 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA406682131 rs1418170773 |
59 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA406682128 rs1418170773 |
59 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA406682296 rs1258573036 |
63 | G>A | No |
ClinGen gnomAD |
|
|
CA406682195 rs1156562513 |
63 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs904836271 CA309301787 |
65 | P>L | No |
ClinGen Ensembl |
|
|
rs1186344725 CA406682324 |
65 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753973554 CA9550958 |
70 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9550959 rs761824697 |
71 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9550960 rs761824697 |
71 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398129245 CA406682463 |
73 | R>Q | No |
ClinGen TOPMed |
|
|
rs758818281 CA9550962 |
73 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138505126 CA9550964 |
75 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM304919 rs780443467 CA9550963 |
75 | H>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1281517559 CA406682512 |
77 | G>R | No |
ClinGen gnomAD |
|
|
CA9550968 rs747701574 |
77 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 78 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9550970 rs777629154 |
79 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1448361154 CA406682550 |
79 | N>S | No |
ClinGen gnomAD |
|
|
rs748929813 CA9550971 |
80 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193297764 CA406682560 |
80 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs770890791 CA406682579 |
82 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9550972 rs770890791 |
82 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406682606 rs1433937751 |
84 | P>L | No |
ClinGen gnomAD |
|
|
rs1056118500 CA309301930 |
84 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406682613 rs1400527369 |
85 | L>F | No |
ClinGen gnomAD |
|
|
rs1170580274 CA406682627 |
86 | T>R | No |
ClinGen gnomAD |
|
|
rs1002664727 CA309301933 |
87 | L>V | No |
ClinGen TOPMed |
|
|
CA309301938 rs1035850861 |
88 | Y>D | No |
ClinGen TOPMed |
|
|
CA406682661 rs1317757068 |
89 | L>* | No |
ClinGen gnomAD |
|
|
TCGA novel rs759203855 CA9550975 CA9550974 |
89 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA406682658 rs1401430711 |
89 | L>V | No |
ClinGen gnomAD |
|
|
CA406682680 rs1443171204 |
90 | C>W | No |
ClinGen gnomAD |
|
|
rs775223033 CA9550976 |
92 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1370909333 CA406682713 |
93 | T>I | No |
ClinGen gnomAD |
|
|
CA406682715 rs1231609087 |
94 | Q>K | No |
ClinGen gnomAD |
|
|
CA406682730 rs1569077390 |
95 | A>T | No |
ClinGen Ensembl |
|
|
rs961077962 CA309301944 |
97 | S>N | No |
ClinGen TOPMed |
|
|
rs140240394 CA9550977 |
97 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406682773 rs1352401371 |
98 | A>V | No |
ClinGen gnomAD |
|
|
rs1205314817 CA406682816 |
101 | N>S | No |
ClinGen gnomAD |
|
|
rs1205314817 CA406682814 |
101 | N>T | No |
ClinGen gnomAD |
|
|
rs1280814465 CA406682880 |
103 | L>P | No |
ClinGen TOPMed |
|
|
rs745680554 CA9550991 |
104 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778372921 CA9550990 |
104 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1252547854 CA406682910 |
105 | M>I | No |
ClinGen gnomAD |
|
|
rs1438227348 CA406682929 |
107 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs973980013 CA309302061 |
114 | T>I | No |
ClinGen gnomAD |
|
|
CA309302077 rs192256530 |
115 | K>E | No |
ClinGen 1000Genomes |
|
|
CA9550992 rs771758365 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 117 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769899973 CA9550995 |
118 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746925561 CA406683073 |
118 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9550994 rs746925561 |
118 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA406683112 rs773308912 |
121 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9550997 rs773308912 |
121 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569077504 CA406683149 |
123 | D>E | No |
ClinGen Ensembl |
|
|
rs751837560 CA9550998 |
124 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1601001763 CA406683172 |
124 | E>D | No |
ClinGen Ensembl |
|
|
rs1306497669 CA406683156 |
124 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1569077519 COSM998963 CA406683185 |
125 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1433142926 CA406683194 |
126 | E>K | No |
ClinGen TOPMed |
|
|
rs137971040 CA9551005 |
128 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406683226 rs1601001786 |
128 | E>K | No |
ClinGen Ensembl |
|
|
CA406683250 rs1237632415 |
129 | E>D | No |
ClinGen TOPMed |
|
|
rs774435008 CA9551006 |
130 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760008172 CA309302112 |
131 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs760008172 CA9551008 |
131 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA406683958 rs1209111210 |
133 | D>E | No |
ClinGen TOPMed |
|
|
rs373794519 CA309302124 |
133 | D>H | No |
ClinGen ESP TOPMed |
|
|
rs373794519 CA309302118 |
133 | D>N | No |
ClinGen ESP TOPMed |
|
|
CA406683966 rs1175977335 |
134 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1339980137 CA406683985 |
135 | E>K | No |
ClinGen gnomAD |
|
|
rs1204199408 CA406684016 |
136 | E>G | No |
ClinGen gnomAD |
|
|
rs1006520417 CA309302164 |
137 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9551010 rs200480479 |
137 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406684056 rs1188863566 |
139 | P>T | No |
ClinGen gnomAD |
|
|
CA406684119 rs1374154461 |
143 | L>M | No |
ClinGen gnomAD |
|
|
rs745493814 CA9551016 |
145 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs371175718 CA9551015 COSM1612521 |
145 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA406684173 rs1377987172 |
146 | V>G | No |
ClinGen gnomAD |
|
|
CA9551017 rs149492901 |
146 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779791745 CA9551018 |
147 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768601092 CA406684207 |
148 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9551019 rs150286220 |
148 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776488725 CA9551021 |
149 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA309302199 rs956803083 |
149 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs776488725 CA406684216 |
149 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA406684232 rs1272237017 |
150 | G>D | No |
ClinGen gnomAD |
|
|
CA9551023 rs375069485 |
152 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9551025 rs752123165 |
154 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406684287 rs752123165 |
154 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188363336 CA406684307 |
155 | V>A | No |
ClinGen gnomAD |
|
|
rs1187275879 CA406684316 |
156 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1187275879 CA406684314 |
156 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs759649388 CA9551026 |
156 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406684929 rs1475935896 |
157 | V>E | No |
ClinGen TOPMed |
|
|
CA9551044 rs778894183 |
158 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA9551045 rs745913359 |
159 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1456314256 CA406684968 |
161 | G>D | No |
ClinGen gnomAD |
|
|
CA406685007 rs1437057108 |
164 | P>H | No |
ClinGen gnomAD |
|
|
rs200213949 CA9551049 |
168 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9551048 CA406685059 rs148152481 |
168 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406685057 rs148152481 |
168 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9551050 rs777326596 |
169 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551051 rs777326596 |
169 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406685104 rs1236111427 |
170 | S>L | No |
ClinGen TOPMed |
|
|
CA309305007 rs944223880 |
172 | K>N | No |
ClinGen Ensembl |
|
|
CA406685188 rs1569078809 |
175 | V>M | No |
ClinGen Ensembl |
|
|
rs1289290508 CA406685198 |
176 | E>K | No |
ClinGen gnomAD |
|
|
rs765734169 CA9551052 |
177 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1226668033 CA406685242 |
178 | F>L | No |
ClinGen gnomAD |
|
|
rs749920633 CA406685250 |
179 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551053 rs749920633 |
179 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268121011 CA406685261 |
180 | L>R | No |
ClinGen TOPMed |
|
|
CA309305035 rs766021879 |
181 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199574524 CA9551057 |
181 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199574524 CA9551056 |
181 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766021879 CA9551055 |
181 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1209090 CA9551059 rs752502004 |
182 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9551058 rs201501296 |
182 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA406685345 rs1601004211 |
186 | V>G | No |
ClinGen Ensembl |
|
|
COSM1209089 rs777708503 CA9551061 |
186 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA406685361 rs1419326653 |
187 | V>A | No |
ClinGen gnomAD |
|
|
CA406685363 rs1419326653 |
187 | V>G | No |
ClinGen gnomAD |
|
|
CA406685401 rs1569078835 |
189 | E>D | No |
ClinGen Ensembl |
|
|
rs1405423543 CA406685432 |
191 | Q>L | No |
ClinGen gnomAD |
|
|
CA9551062 rs745939644 |
192 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406685464 rs1444183327 |
193 | L>R | No |
ClinGen gnomAD |
|
|
CA9551066 rs769181197 |
194 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9551067 rs144047399 |
195 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs568112921 CA9551069 |
196 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs147327994 CA406685535 |
198 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9551071 rs201701983 |
198 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9551072 rs751255091 |
199 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1251494970 CA406685541 |
199 | D>H | No |
ClinGen gnomAD |
|
|
rs1247729053 CA406685558 |
200 | E>A | No |
ClinGen TOPMed |
|
|
CA406685571 rs1601004276 |
201 | Q>E | No |
ClinGen Ensembl |
|
|
COSM1734864 rs370720690 CA9551073 |
202 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9551074 rs767112071 |
204 | M>I | No |
ClinGen ExAC |
|
|
rs1259135513 CA406685647 |
206 | P>A | No |
ClinGen gnomAD |
|
|
rs140674923 CA309305126 |
207 | I>L | No |
ClinGen ESP |
|
|
rs752450363 CA406685682 |
208 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035987213 CA309305133 |
209 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 209 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs891739403 CA309305171 |
211 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9551077 rs777640423 |
211 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA406685737 rs1369668422 |
212 | G>A | No |
ClinGen gnomAD |
|
|
rs1322599161 CA406685729 |
212 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406685761 rs1315062434 |
214 | M>T | No |
ClinGen gnomAD |
|
|
rs753803007 CA9551078 |
214 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1341294712 CA406685770 |
215 | G>S | No |
ClinGen gnomAD |
|
|
CA406685806 rs1277110044 |
217 | G>D | No |
ClinGen TOPMed |
|
|
rs1282446606 CA406685800 |
217 | G>S | No |
ClinGen gnomAD |
|
|
rs911606479 CA309305214 |
219 | A>G | No |
ClinGen TOPMed |
|
|
CA406685822 rs1229340560 |
219 | A>P | No |
ClinGen TOPMed |
|
|
CA9551082 rs755272077 |
221 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1601004361 CA406685845 |
221 | D>E | No |
ClinGen Ensembl |
|
|
CA9551081 rs747045365 |
221 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1263783733 CA406685854 |
222 | W>S | No |
ClinGen gnomAD |
|
|
CA406685866 rs1569078938 |
223 | S>P | No |
ClinGen Ensembl |
|
|
CA406685872 rs1340527618 |
223 | S>Y | No |
ClinGen gnomAD |
|
|
rs1455989802 CA406685887 |
224 | P>L | No |
ClinGen TOPMed |
|
|
rs147465341 CA406685889 |
225 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs770573431 | 225 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770573431 | 225 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748463030 CA9551085 |
225 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551084 rs147465341 |
225 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9551087 rs139299867 |
226 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1569078977 CA406685921 |
228 | G>S | No |
ClinGen Ensembl |
|
|
rs200765474 CA9551115 |
229 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150020838 CA9551116 |
229 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150020838 CA9551117 |
229 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756383763 CA9551120 |
233 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA406686033 rs145815703 |
233 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9551119 rs145815703 |
233 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406686048 rs1228489626 |
234 | D>G | No |
ClinGen gnomAD |
|
|
CA9551121 rs777804069 |
235 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551122 rs754210394 |
237 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779454124 CA9551124 |
243 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs746353536 CA9551125 |
244 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9551126 rs539481541 |
245 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564945522 CA9551130 |
246 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406686231 rs1569079124 |
247 | G>D | No |
ClinGen Ensembl |
|
|
CA9551132 rs769694855 |
247 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs201666798 CA9551134 |
248 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406686260 rs1424571186 |
250 | W>R | No |
ClinGen TOPMed |
|
|
rs766182030 CA9551136 |
251 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760608266 CA9551137 |
252 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551138 rs544363028 |
253 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472225882 CA406686323 |
254 | Q>* | No |
ClinGen gnomAD |
|
|
rs1207970981 CA406686340 |
255 | R>Q | No |
ClinGen TOPMed |
|
|
rs754046830 CA9551139 |
255 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406686357 rs1326505023 |
256 | P>R | No |
ClinGen gnomAD |
|
|
rs757669835 CA309305682 |
257 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285411761 CA406686360 |
257 | F>L | No |
ClinGen TOPMed |
|
|
CA406686361 rs1245098362 |
257 | F>Y | No |
ClinGen TOPMed |
|
|
CA9551142 rs756088504 |
258 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs779219307 CA9551141 |
258 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1451006188 CA406686369 |
259 | G>S | No |
ClinGen TOPMed |
|
|
CA9551143 rs758965827 |
260 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780367395 CA9551144 |
261 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746532886 CA9551145 |
262 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768042455 CA9551146 |
262 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781045719 CA9551147 |
265 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406686458 rs1368592385 |
266 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1188322606 CA406686482 |
267 | L>R | No |
ClinGen gnomAD |
|
|
CA406686499 rs1458454048 |
268 | Q>H | No |
ClinGen TOPMed |
|
|
CA406686484 rs1368416670 |
268 | Q>K | No |
ClinGen gnomAD |
|
|
CA406686515 rs1368153810 |
269 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9551148 rs747778309 |
271 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456782965 CA406686535 |
271 | P>S | No |
ClinGen gnomAD |
|
|
rs1358367482 CA406686594 |
275 | T>A | No |
ClinGen gnomAD |
|
|
CA9551150 rs773166425 |
275 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs761822700 CA9551177 |
278 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376713664 CA406686724 |
281 | S>L | No |
ClinGen gnomAD |
|
|
rs1389298760 CA406686731 |
283 | D>N | No |
ClinGen gnomAD |
|
|
rs763429005 CA406686742 |
284 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs773302363 CA9551179 |
284 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763429005 CA9551180 |
284 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA406686747 rs1440213856 |
285 | S>C | No |
ClinGen TOPMed |
|
|
COSM1190102 CA9551181 rs766626456 |
286 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs149086809 CA9551182 |
287 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149086809 CA406686755 |
287 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9551183 rs755571291 |
287 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9551184 rs755571291 |
287 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs752263846 CA9551185 |
288 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551186 rs755684797 |
288 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329102216 CA406686775 |
290 | D>A | No |
ClinGen gnomAD |
|
|
rs1248930135 CA406686782 |
291 | I>F | No |
ClinGen gnomAD |
|
|
rs143441649 CA9551188 |
291 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367969982 CA9551189 |
292 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1037527529 CA309306113 |
292 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1160790405 CA406686796 |
294 | A>P | No |
ClinGen gnomAD |
|
|
rs745615935 CA9551191 |
294 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1456230245 CA406686801 |
295 | P>A | No |
ClinGen gnomAD |
|
|
rs1478930684 CA406686821 |
297 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA406686823 rs1351532074 |
298 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 299 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473547984 CA406686840 |
300 | M>T | No |
ClinGen TOPMed |
|
|
rs1436943535 CA406686862 |
303 | T>I | No |
ClinGen gnomAD |
|
|
CA406686861 rs1436943535 |
303 | T>R | No |
ClinGen gnomAD |
|
|
rs535666494 CA9551193 |
306 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1289193110 CA406686879 |
306 | A>V | No |
ClinGen gnomAD |
|
|
CA9551194 rs201243351 |
307 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs988219832 CA309306168 |
310 | D>H | No |
ClinGen gnomAD |
|
|
CA406686901 rs988219832 |
310 | D>N | No |
ClinGen gnomAD |
|
|
COSM1318273 CA9551196 rs773527945 |
311 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9551197 rs374656254 |
312 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs554415680 CA9551198 |
312 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406686919 rs1489735613 |
313 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9551199 rs774599231 |
317 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140220072 CA9551200 |
318 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9551201 rs768208806 COSM3743032 |
318 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
VAR_046334 rs2302951 CA9551203 |
319 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs145223989 CA9551202 |
319 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406686965 rs1405837220 |
320 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA406686963 rs1405837220 |
320 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1363537780 CA406687028 |
325 | S>N | No |
ClinGen gnomAD |
|
|
rs140774613 CA9551205 |
327 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406687080 rs1285963103 |
328 | D>E | No |
ClinGen gnomAD |
|
|
rs201752779 CA9551207 |
328 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201752779 CA406687075 |
328 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406687095 rs1180913607 |
329 | D>E | No |
ClinGen TOPMed |
|
|
CA406687091 rs1601005004 |
329 | D>G | No |
ClinGen Ensembl |
|
|
rs1601004999 CA406687083 |
329 | D>N | No |
ClinGen Ensembl |
|
|
CA9551208 rs778567948 |
331 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA406687124 rs1444416724 |
332 | L>V | No |
ClinGen TOPMed |
|
|
rs750221357 CA9551209 |
337 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs372404488 CA406687211 |
338 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406687214 COSM998965 rs1344811488 |
338 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs372404488 CA9551210 |
338 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274922675 CA406687249 |
340 | F>L | No |
ClinGen gnomAD |
|
|
CA406687257 rs1436792498 |
341 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1436792498 CA406687254 |
341 | K>Q | No |
ClinGen gnomAD |
|
|
rs1569080124 CA406687430 |
342 | S>A | No |
ClinGen Ensembl |
|
|
CA406687440 rs1328132367 |
343 | G>S | No |
ClinGen TOPMed |
|
|
rs536926346 CA9551239 |
345 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA309307588 rs34470836 |
345 | P>L | No |
ClinGen gnomAD |
|
|
CA309307585 rs34470836 |
345 | P>Q | No |
ClinGen gnomAD |
|
|
rs536926346 CA406687470 |
345 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777188163 CA9551240 |
346 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9551241 rs200748396 |
347 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752987228 CA309307625 |
347 | A>V | No |
ClinGen Ensembl |
|
|
CA406687481 rs1601005958 |
348 | T>P | No |
ClinGen Ensembl |
|
|
rs1325088242 CA406687488 |
349 | F>L | No |
ClinGen gnomAD |
|
|
CA406687555 rs144509270 |
353 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144509270 CA9551243 |
353 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762623800 CA9551244 |
354 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 354 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9551245 rs765966446 |
356 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765966446 CA406687588 |
356 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751367297 CA9551246 |
357 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745784143 CA9551247 |
359 | V>I | Variant assessed as Somatic; 4.667e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752659401 CA9551249 |
360 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9551252 rs565828207 |
362 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406687670 rs1601005995 |
362 | H>Y | No |
ClinGen Ensembl |
|
|
CA9551253 rs745897631 |
363 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9551254 rs377375944 |
364 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406687723 rs1351155961 |
365 | D>A | No |
ClinGen TOPMed |
|
|
CA406687727 rs1383422301 |
365 | D>E | No |
ClinGen gnomAD |
|
|
CA309307709 rs751716557 |
367 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs747396458 CA9551256 |
367 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406687761 rs578057612 |
368 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs578057612 CA9551257 |
368 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406687811 rs777050100 |
372 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs755256324 COSM998966 CA9551259 |
372 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9551258 rs777050100 |
372 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs772729812 CA9551261 |
373 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs772729812 CA406687828 |
373 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA406687836 rs1211445453 |
374 | A>T | No |
ClinGen gnomAD |
|
|
rs1490117912 CA406687863 |
376 | H>N | No |
ClinGen gnomAD |
|
|
CA9551264 rs774041858 |
377 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9551265 rs759300042 |
380 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9551267 rs752395281 |
380 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs767313528 CA9551266 |
380 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA406687905 rs1459862616 |
382 | D>N | No |
ClinGen gnomAD |
|
|
CA9551269 rs545560225 |
384 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1300983767 CA406687927 |
385 | V>A | No |
ClinGen gnomAD |
|
|
CA406687925 rs1423100966 |
385 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 386 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9551271 rs146895668 |
387 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9551270 rs750538304 |
387 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551273 rs373816379 |
390 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373816379 CA9551272 |
390 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377325041 CA9551274 |
391 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406687977 rs200076597 CA406687976 |
393 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309307793 rs895089660 |
393 | D>N | No |
ClinGen gnomAD |
|
|
rs748857197 CA9551279 |
394 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285571446 CA406687983 |
395 | E>K | No |
ClinGen TOPMed |
|
|
rs773915916 CA9551281 |
397 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551285 rs775372217 |
399 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771580285 CA9551284 |
399 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760482921 CA9551286 |
400 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551289 rs763171131 |
402 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334815921 CA406688041 |
404 | P>L | No |
ClinGen gnomAD |
|
|
CA406688076 rs1002184073 |
409 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9551294 rs753109235 |
410 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756464583 CA9551295 |
411 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406688537 rs1262761314 |
413 | G>A | No |
ClinGen TOPMed |
|
|
CA406688556 rs1252529554 |
414 | E>D | No |
ClinGen gnomAD |
|
|
rs1490789468 CA406688545 |
414 | E>K | No |
ClinGen TOPMed |
|
|
CA406688565 rs1292174614 |
415 | T>I | No |
ClinGen TOPMed |
|
|
rs1243090326 CA406688582 |
416 | E>D | No |
ClinGen gnomAD |
|
|
CA9551298 rs771387893 |
416 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771387893 CA406688572 |
416 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406688613 rs1460323654 |
419 | E>K | No |
ClinGen gnomAD |
|
|
rs1569080335 CA406688680 |
423 | H>L | No |
ClinGen Ensembl |
|
|
CA9551300 rs745313012 |
424 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551299 rs778508457 |
424 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601006214 CA406688704 |
425 | Q>R | No |
ClinGen Ensembl |
|
|
rs1450294811 CA406688758 |
429 | L>H | No |
ClinGen gnomAD |
|
|
CA406688753 rs1405301504 |
429 | L>I | No |
ClinGen gnomAD |
|
|
rs776745728 CA9551305 |
430 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs761869282 CA9551307 |
431 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761869282 CA9551306 |
431 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406688785 rs1473912897 |
432 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs751672705 CA9551308 |
432 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1173096239 CA406688801 |
433 | T>A | No |
ClinGen TOPMed |
|
|
CA9551309 rs759465666 |
433 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767845353 CA309310748 |
434 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9551310 rs767845353 |
434 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756511758 CA9551312 |
435 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs955017360 CA309310776 |
440 | I>V | No |
ClinGen TOPMed |
|
|
CA9551315 rs201379668 |
442 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771216738 CA9551316 |
442 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406688944 rs1199539716 |
444 | I>M | No |
ClinGen gnomAD |
|
|
rs1601006294 CA406688934 |
444 | I>V | No |
ClinGen Ensembl |
|
|
CA406688952 rs1428049036 |
445 | S>N | No |
ClinGen gnomAD |
|
|
rs768380375 COSM1395025 CA9551321 |
446 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs371830640 COSM70993 CA9551319 |
446 | V>I | ovary Variant assessed as Somatic; 5.47e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9551320 rs371830640 |
446 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406688980 rs1452812102 |
447 | V>C | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9BQ67
9 regional properties for Q9BQ67
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 203 - 243 | IPR001680-1 |
| repeat | WD40 repeat | 249 - 292 | IPR001680-2 |
| repeat | WD40 repeat | 297 - 338 | IPR001680-3 |
| repeat | WD40 repeat | 342 - 383 | IPR001680-4 |
| conserved_site | WD40 repeat, conserved site | 323 - 337 | IPR019775 |
| repeat | G-protein beta WD-40 repeat | 277 - 291 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 323 - 337 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 369 - 383 | IPR020472-3 |
| domain | Histone-binding protein RBBP4, N-terminal | 45 - 112 | IPR022052 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA replication origin binding | Binding to a DNA replication origin, a unique DNA sequence of a replicon at which DNA replication is initiated and proceeds bidirectionally or unidirectionally. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA replication | The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. |
| nucleosome assembly | The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
| nucleosome disassembly | The controlled breakdown of nucleosomes, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
| ribosome biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAARKGRRRT | CETGEPMEAE | SGDTSSEGPA | QVYLPGRGPP | LREGEELVMD | EEAYVLYHRA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QTGAPCLSFD | IVRDHLGDNR | TELPLTLYLC | AGTQAESAQS | NRLMMLRMHN | LHGTKPPPSE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GSDEEEEEED | EEDEEERKPQ | LELAMVPHYG | GINRVRVSWL | GEEPVAGVWS | EKGQVEVFAL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RRLLQVVEEP | QALAAFLRDE | QAQMKPIFSF | AGHMGEGFAL | DWSPRVTGRL | LTGDCQKNIH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LWTPTDGGSW | HVDQRPFVGH | TRSVEDLQWS | PTENTVFASC | SADASIRIWD | IRAAPSKACM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LTTATAHDGD | VNVISWSRRE | PFLLSGGDDG | ALKIWDLRQF | KSGSPVATFK | QHVAPVTSVE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WHPQDSGVFA | ASGADHQITQ | WDLAVERDPE | AGDVEADPGL | ADLPQQLLFV | HQGETELKEL |
| 430 | 440 | ||||
| HWHPQCPGLL | VSTALSGFTI | FRTISV |