Q0VAA2
PR
Gene name |
LRRC74A |
Protein name |
Leucine-rich repeat-containing protein 74A |
Names |
Leucine-rich repeat-containing protein 74 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:145497 |
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 Q0VAA2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q0VAA2-F1 | Predicted | AlphaFoldDB |
431 variants for Q0VAA2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA390487162 rs1282778755 |
2 | H>Y | No |
ClinGen gnomAD |
|
|
rs775216415 CA7282864 |
3 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248930953 CA390487181 |
4 | Q>E | No |
ClinGen gnomAD |
|
|
COSM3401479 CA390487219 rs1190778411 |
7 | S>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA390487215 rs1183167519 |
7 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390487238 rs1377501980 |
9 | P>A | No |
ClinGen gnomAD |
|
|
CA7282866 rs202183792 |
12 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390487267 rs1477179499 |
12 | P>T | No |
ClinGen TOPMed |
|
|
CA7282868 rs761372919 |
13 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1457416846 CA390487303 |
15 | C>F | No |
ClinGen TOPMed |
|
|
rs767625989 CA7282869 |
17 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1446122927 CA390487345 |
18 | G>E | No |
ClinGen gnomAD |
|
|
CA7282870 rs750312780 |
18 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1398373923 CA390487352 |
19 | R>T | No |
ClinGen gnomAD |
|
|
rs755948145 CA390487363 |
20 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA7282871 rs755948145 |
20 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7282872 rs371403927 |
22 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754120975 CA7282873 |
22 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7282874 rs755244062 |
23 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA263765875 rs757945405 |
23 | G>V | No |
ClinGen gnomAD |
|
|
CA390487405 rs1256712072 |
24 | S>F | No |
ClinGen TOPMed |
|
|
rs374629334 CA7282876 |
25 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390487423 rs1481830552 |
26 | G>E | No |
ClinGen gnomAD |
|
|
rs981683540 CA263765881 |
26 | G>R | No |
ClinGen Ensembl |
|
|
CA390487440 rs1196696271 |
27 | M>T | No |
ClinGen gnomAD |
|
|
CA263765885 rs758461408 |
28 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7282877 rs758461408 |
28 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7282878 rs758461408 |
28 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7282879 rs747410665 |
29 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7282880 rs771362058 |
30 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 31 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486469072 CA390488351 |
32 | I>L | No |
ClinGen gnomAD |
|
|
CA7282921 rs368136760 |
32 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7282923 rs552624929 |
37 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7282922 rs114437600 |
37 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200189415 CA7282925 |
38 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7282924 rs200189415 |
38 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1308171872 CA390488508 |
38 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1173142148 CA390488537 |
40 | S>N | No |
ClinGen gnomAD |
|
|
rs770419685 CA7282928 |
42 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960356227 CA263766962 |
45 | L>V | No |
ClinGen Ensembl |
|
|
CA7282931 rs769603711 |
47 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300441191 CA390488733 |
47 | C>W | No |
ClinGen gnomAD |
|
|
rs1375543324 CA390488730 |
47 | C>Y | No |
ClinGen TOPMed |
|
|
rs1374638303 CA390488784 |
49 | A>V | No |
ClinGen gnomAD |
|
|
rs764285903 CA7282934 |
50 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762701243 CA7282933 |
50 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538117698 CA7282935 |
51 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA263766989 rs1023788303 |
52 | P>L | No |
ClinGen TOPMed |
|
|
CA7282939 rs750997291 |
53 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7282940 rs148747129 |
53 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7282938 rs750997291 |
53 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566712553 CA390488910 |
57 | K>Q | No |
ClinGen Ensembl |
|
|
CA390488943 rs1191655811 |
59 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1251292961 CA390488953 |
60 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs376082185 CA263767030 |
61 | A>D | No |
ClinGen Ensembl |
|
|
rs376082185 CA263767027 |
61 | A>V | No |
ClinGen Ensembl |
|
|
CA7282948 rs745363240 |
62 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7282946 rs117254981 |
62 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1174509003 CA390489006 |
63 | E>G | No |
ClinGen gnomAD |
|
|
rs1233019772 CA390489117 |
69 | L>P | No |
ClinGen TOPMed |
|
|
CA390489112 rs1233019772 |
69 | L>Q | No |
ClinGen TOPMed |
|
|
CA390489108 rs1264737024 |
69 | L>V | No |
ClinGen gnomAD |
|
|
CA263767078 rs372636254 |
70 | E>D | No |
ClinGen ESP |
|
|
CA263767090 rs1038480397 |
72 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7282949 rs769766997 |
73 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 76 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777659916 CA7283017 |
77 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA7283020 rs781263199 |
82 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201334339 CA7283021 |
84 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769708746 CA7283022 |
85 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7283023 rs776073037 |
86 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs763413427 CA7283024 |
87 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA390491267 rs1156524128 |
88 | E>A | No |
ClinGen TOPMed |
|
|
rs1408115183 CA390491274 |
89 | A>T | No |
ClinGen TOPMed |
|
|
CA390491277 rs1315839383 |
89 | A>V | No |
ClinGen gnomAD |
|
|
rs1236206937 CA390491285 |
90 | C>W | No |
ClinGen gnomAD |
|
|
CA390491306 CA390491305 rs1209687054 |
93 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7283027 rs762135881 |
93 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA390491317 rs1244965300 |
95 | V>A | No |
ClinGen TOPMed |
|
|
CA7283029 rs753374327 |
96 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs368816984 CA7283031 |
100 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464286908 CA390491344 |
100 | Y>D | No |
ClinGen TOPMed |
|
|
CA390491351 rs1595340888 |
101 | F>I | No |
ClinGen Ensembl |
|
|
rs866361751 CA263768896 |
101 | F>S | No |
ClinGen Ensembl |
|
|
rs74851017 CA263768902 |
102 | I>S | No |
ClinGen Ensembl |
|
|
CA7283033 rs377584165 |
103 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138111283 CA7283034 |
103 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138111283 CA7283035 |
103 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA263768913 rs377584165 COSM3815383 |
103 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751463009 CA7283036 |
104 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs751463009 CA390491373 |
104 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs200822356 CA263768929 |
105 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200822356 CA7283037 |
105 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7283039 rs557701075 |
109 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142627436 CA7283041 |
110 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1390148406 CA390491454 |
111 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 111 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7283042 rs544081020 |
114 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150567745 CA7283043 |
115 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1313761898 CA390491525 |
116 | G>D | No |
ClinGen gnomAD |
|
|
CA7283045 rs748570959 |
116 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200575556 CA7283046 |
120 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7283047 rs149051733 |
120 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143093578 CA7283048 |
121 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595341085 CA390491571 |
121 | G>S | No |
ClinGen Ensembl |
|
|
rs762545754 CA7283051 |
124 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA390491669 rs764180869 |
127 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs764180869 CA7283052 |
127 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1160602908 CA390492958 |
132 | N>H | No |
ClinGen TOPMed |
|
|
CA390492969 rs1427044770 |
132 | N>S | No |
ClinGen gnomAD |
|
|
rs1422924296 CA390493003 COSM1707623 |
133 | M>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7283068 rs373943713 |
134 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390493043 rs1401609512 |
135 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA390493052 rs1595350148 |
135 | V>G | No |
ClinGen Ensembl |
|
|
CA390493049 rs1401609512 |
135 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs569190734 CA7283069 |
137 | K>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761609399 CA7283071 |
142 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767470699 CA7283072 |
142 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs760515333 CA7283074 |
145 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538090258 CA263770990 |
145 | I>T | No |
ClinGen 1000Genomes |
|
|
rs766646384 CA7283075 |
146 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390493292 rs1334134659 |
147 | E>* | No |
ClinGen gnomAD |
|
|
rs754002061 CA7283076 |
149 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA390493357 rs1222602362 |
150 | V>A | No |
ClinGen gnomAD |
|
|
COSM3956230 CA7283079 rs752798580 |
150 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA390493383 rs1172666465 |
151 | L>F | No |
ClinGen gnomAD |
|
|
rs1291560843 CA390493409 |
153 | L>P | No |
ClinGen TOPMed |
|
|
CA7283081 rs368084582 |
155 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7283082 rs747388132 |
156 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7283083 rs771266092 |
158 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA263771003 rs771266092 |
158 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs779853435 CA7283084 |
160 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7283085 rs748913592 |
161 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7283088 rs774057532 |
164 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA263771023 rs796217190 |
165 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7283090 rs372399040 |
166 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390493647 rs1454028317 |
166 | M>T | No |
ClinGen TOPMed |
|
|
CA7283089 rs139996732 |
166 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390494424 rs1343161917 |
167 | N>S | No |
ClinGen TOPMed |
|
|
rs1443560757 CA390494443 |
168 | I>T | No |
ClinGen gnomAD |
|
|
CA390494472 rs1201189505 |
170 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777978623 CA263771548 |
171 | N>H | No |
ClinGen gnomAD |
|
|
rs1235836909 CA390494516 |
172 | H>Y | No |
ClinGen gnomAD |
|
|
rs768466441 CA7283108 |
173 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294610826 CA390494555 |
174 | G>C | No |
ClinGen TOPMed |
|
|
CA7283110 rs778624986 |
175 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA7283109 rs778624986 |
175 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA7283111 rs370337650 |
176 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1174153864 CA390494610 |
178 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1402626964 CA390494621 |
179 | R>G | No |
ClinGen gnomAD |
|
|
rs1487324244 CA390494641 |
180 | I>N | No |
ClinGen gnomAD |
|
|
CA390494660 rs1431191930 |
181 | I>T | No |
ClinGen TOPMed |
|
|
rs1326692989 CA390494653 |
181 | I>V | No |
ClinGen gnomAD |
|
|
CA390494676 rs1195894350 |
183 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA390494703 rs1374797183 |
184 | F>C | No |
ClinGen gnomAD |
|
|
COSM958088 rs1449038287 CA390494707 |
184 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7283114 rs760611288 |
186 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1172430124 CA390494735 |
186 | E>G | No |
ClinGen TOPMed |
|
|
rs182417708 CA7283116 |
189 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA263771578 rs935300710 |
189 | S>N | No |
ClinGen TOPMed |
|
|
rs182417708 CA390494776 |
189 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390494811 rs1277045931 |
191 | S>A | No |
ClinGen gnomAD |
|
|
rs759320905 CA7283118 |
193 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA390494836 rs1256660828 |
193 | W>R | No |
ClinGen gnomAD |
|
|
CA7283119 rs765498016 |
194 | S>G | No |
ClinGen ExAC |
|
|
rs775721380 CA7283120 |
194 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs201346482 CA263771606 CA7283121 |
194 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390494872 rs1431151721 |
195 | L>P | No |
ClinGen gnomAD |
|
|
rs1200542569 CA390494882 |
196 | E>G | No |
ClinGen gnomAD |
|
|
CA263771613 rs866744314 |
198 | S>L | No |
ClinGen Ensembl |
|
|
CA263774290 rs976814615 |
199 | G>E | No |
ClinGen TOPMed |
|
|
rs769508596 CA7283138 |
201 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1296795367 CA390495949 |
203 | K>E | No |
ClinGen gnomAD |
|
|
rs775603329 CA7283139 |
205 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs141166642 CA7283140 |
205 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764204282 CA7283141 |
207 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 208 | A>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595365320 CA390496098 |
209 | L>V | No |
ClinGen Ensembl |
|
|
rs1566727082 CA390496147 |
211 | C>* | No |
ClinGen Ensembl |
|
|
rs1319425615 CA390496135 |
211 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA263774307 rs867439305 |
213 | A>V | No |
ClinGen Ensembl |
|
|
CA390496208 rs1265493420 |
214 | L>R | No |
ClinGen gnomAD |
|
|
CA7283143 rs146932163 |
215 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1349580656 CA390496211 |
215 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761999961 CA390496360 |
218 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390496358 rs1234654861 |
218 | Y>H | No |
ClinGen TOPMed |
|
|
CA7283160 rs761999961 |
218 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263774396 rs956940105 |
220 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1468034912 CA390496463 |
222 | K>N | No |
ClinGen gnomAD |
|
|
rs1398952301 CA390496516 |
226 | S>T | No |
ClinGen gnomAD |
|
|
rs772214844 CA7283161 |
228 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM259725 CA263774399 rs779028912 |
230 | F>L | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA390496693 rs1386898247 |
233 | V>I | No |
ClinGen TOPMed |
|
|
rs866251812 CA263774403 |
234 | G>E | No |
ClinGen Ensembl |
|
|
CA390496710 CA390496712 rs1377240201 |
234 | G>R | No |
ClinGen gnomAD |
|
|
rs988184508 CA263774409 |
236 | E>K | No |
ClinGen TOPMed |
|
|
rs766765118 CA7283164 |
237 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7283167 rs759804541 |
240 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM3736117 rs200597036 CA7283168 |
241 | M>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA390496872 rs200597036 |
241 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs751142638 CA7283169 |
242 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7283170 rs756786950 |
242 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7283186 rs751230531 |
243 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390540896 rs751230531 |
243 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7283171 rs370051436 |
243 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390540899 rs1404191055 |
244 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1162296531 CA390540910 |
245 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM699322 rs368622916 CA390540914 |
246 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7283188 rs368622916 |
246 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755568405 CA7283190 |
247 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7283189 rs750006143 |
247 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1323181939 CA390540927 |
248 | L>P | No |
ClinGen TOPMed |
|
|
CA390540930 rs1278712896 |
249 | T>A | No |
ClinGen gnomAD |
|
|
CA7283191 rs138170515 |
249 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7283193 rs754833743 |
250 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA264029844 rs940078580 |
252 | D>E | No |
ClinGen gnomAD |
|
|
rs1158732714 CA390540944 |
252 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 253 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868818164 CA264029845 |
255 | W>* | No |
ClinGen Ensembl |
|
|
rs1322383532 CA390540965 |
255 | W>G | No |
ClinGen TOPMed |
|
|
rs747919649 CA7283195 |
255 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs369426466 CA264029846 |
256 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369426466 CA7283196 |
256 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7283198 rs199887887 |
257 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 258 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770846517 CA7283199 |
259 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7283201 rs777222724 |
262 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA264029848 rs1044277986 |
263 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390541023 rs1415326745 |
264 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA390541050 rs1308971733 |
268 | N>D | No |
ClinGen gnomAD |
|
|
rs1251485946 COSM1707627 CA390541056 |
269 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs150554930 CA7283205 |
270 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775876309 CA7283204 |
270 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369516169 CA7283207 |
271 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150796689 CA7283206 |
271 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1174275218 CA390541084 |
272 | G>D | No |
ClinGen gnomAD |
|
|
rs906477028 CA264029935 |
273 | N>K | No |
ClinGen TOPMed |
|
|
CA7283230 rs202130671 |
274 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371108341 CA7283231 |
277 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371108341 CA7283232 |
277 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398120481 CA390541130 |
280 | D>Y | No |
ClinGen gnomAD |
|
|
CA390541138 rs1449298385 |
281 | L>F | No |
ClinGen gnomAD |
|
|
rs1380710925 CA390541146 |
282 | S>F | No |
ClinGen TOPMed |
|
|
rs763743268 CA7283234 |
282 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7283235 rs751345179 |
283 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390541150 rs751345179 |
283 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390541181 rs1276953569 |
287 | G>E | No |
ClinGen gnomAD |
|
|
rs757457923 CA7283236 |
289 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA390541200 rs1218564882 |
290 | V>L | No |
ClinGen gnomAD |
|
|
rs745996119 CA7283238 |
291 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 293 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936122634 CA264029936 |
295 | G>R | No |
ClinGen TOPMed |
|
|
CA390541245 rs1457595003 |
298 | L>V | No |
ClinGen TOPMed |
|
|
rs200930269 CA7283241 |
299 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs558316728 CA7283242 |
299 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390541267 rs994893609 |
302 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7283243 rs779195574 |
302 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA264029937 rs994893609 |
302 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390541272 rs1186440339 |
303 | C>R | No |
ClinGen TOPMed |
|
|
CA264029938 rs149373699 |
303 | C>W | No |
ClinGen ESP |
|
|
CA390541274 rs1448244422 |
303 | C>Y | No |
ClinGen TOPMed |
|
|
CA7283244 rs748515467 |
304 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1421605472 CA390541285 |
305 | V>A | No |
ClinGen gnomAD |
|
|
CA7283245 rs574874334 |
305 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390541282 rs574874334 |
305 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139514548 CA7283247 |
307 | L>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7283248 rs769387837 |
308 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA264029939 rs143651965 |
309 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775587650 CA7283249 |
309 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA264029940 rs764059406 |
310 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764059406 CA390541311 |
310 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7283251 rs764059406 |
310 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751374522 CA390541343 |
314 | I>M | No |
ClinGen ExAC TOPMed |
|
|
CA264029941 rs142713488 |
315 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142713488 CA7283254 COSM1198076 |
315 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390541370 rs1458891414 |
319 | A>T | No |
ClinGen gnomAD |
|
|
CA7283256 rs750582203 |
319 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390541414 rs1227572655 |
325 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA264029943 rs1050545745 |
329 | N>K | No |
ClinGen gnomAD |
|
|
CA7283259 rs146800485 |
329 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390541458 rs1487810787 |
331 | S>R | No |
ClinGen gnomAD |
|
|
rs753892818 CA264029944 |
332 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7283260 rs753892818 |
332 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs755479933 CA7283261 |
334 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA390541480 rs1367957819 |
336 | K>Q | No |
ClinGen gnomAD |
|
|
rs774288870 CA7283278 |
342 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390541539 rs1254135779 |
343 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7283279 rs761521536 |
343 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1358873072 CA390541551 |
344 | M>I | No |
ClinGen gnomAD |
|
|
rs1243811463 CA390541569 |
347 | A>P | No |
ClinGen gnomAD |
|
|
rs1243811463 CA390541570 |
347 | A>S | No |
ClinGen gnomAD |
|
|
CA390541595 rs1176931948 |
351 | I>F | No |
ClinGen gnomAD |
|
|
rs908285782 CA390541599 |
351 | I>M | No |
ClinGen gnomAD |
|
|
rs767307386 CA7283280 |
351 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 353 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750667552 CA7283281 |
354 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390541623 rs1471234358 |
355 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA390541627 rs1336892368 |
356 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7283283 rs766558431 |
357 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA7283284 rs753987105 |
359 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA390541657 rs1595388759 |
360 | S>F | No |
ClinGen Ensembl |
|
|
rs755026897 CA7283285 |
361 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs779291197 CA7283286 |
365 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7283287 rs61746986 |
366 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA264030411 rs918101016 |
368 | S>T | No |
ClinGen Ensembl |
|
| rs748934451 | 369 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7283311 rs575564526 |
370 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390541748 rs1297330976 |
372 | V>A | No |
ClinGen gnomAD |
|
|
CA7283315 rs187527026 |
374 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7283317 rs376641608 |
375 | Q>K | No |
ClinGen ESP ExAC |
|
|
rs776859716 CA7283318 |
376 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA390541773 rs1313135218 |
376 | F>S | No |
ClinGen gnomAD |
|
|
rs146030489 CA7283319 |
377 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA264030723 rs767023241 |
377 | M>V | No |
ClinGen Ensembl |
|
|
CA390541797 rs1223758416 |
379 | T>M | No |
ClinGen gnomAD |
|
|
rs540427136 CA390541799 |
380 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376088587 CA7283322 |
382 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7283323 rs764708171 |
383 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472149982 CA390541819 |
383 | V>L | No |
ClinGen gnomAD |
|
|
rs1566741683 CA390541826 |
384 | Y>F | No |
ClinGen Ensembl |
|
|
rs868612310 CA264030724 |
385 | A>V | No |
ClinGen Ensembl |
|
|
CA7283325 rs757729918 |
386 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA390541847 rs767947363 CA7283326 |
387 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7283327 rs371546829 |
388 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373610283 CA7283331 |
390 | L>M | No |
ClinGen ESP ExAC |
|
|
rs1414707118 CA390541870 |
391 | D>G | No |
ClinGen TOPMed |
|
|
rs745642878 CA7283337 |
392 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745642878 CA7283338 |
392 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7283335 CA7283334 rs746898980 |
392 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7283336 rs746898980 |
392 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595393854 CA390541879 |
393 | V>G | No |
ClinGen Ensembl |
|
|
CA7283339 rs775515485 |
393 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178451172 CA390541881 |
394 | F>L | No |
ClinGen gnomAD |
|
|
rs201172800 CA7283340 |
395 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775024951 CA7283342 |
396 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768106694 CA7283344 |
398 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1431299441 CA390541915 |
399 | G>A | No |
ClinGen gnomAD |
|
|
rs367749455 CA7283345 |
399 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367749455 CA7283346 |
399 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390541918 rs764958271 |
400 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764958271 CA7283347 |
400 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390541938 rs1361869715 |
403 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs61733959 CA7283348 |
405 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7283349 rs757923653 |
406 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390541961 rs1424440364 |
407 | F>V | No |
ClinGen gnomAD |
|
|
CA390541978 rs1330422814 |
409 | L>* | No |
ClinGen TOPMed |
|
|
CA390541984 rs1342552415 |
410 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7283352 rs757248773 |
412 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA264030728 rs372582806 |
413 | M>V | No |
ClinGen Ensembl |
|
|
CA7283354 rs745686456 |
415 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201893780 CA7283355 |
416 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7283376 rs755318785 |
419 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7283377 rs779265325 |
420 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1371340443 CA390542072 |
420 | A>V | No |
ClinGen gnomAD |
|
|
CA390542073 rs1476519749 |
421 | D>N | No |
ClinGen gnomAD |
|
|
CA264031354 rs974251809 |
422 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1055594811 CA264031355 |
424 | K>E | No |
ClinGen Ensembl |
|
|
CA390542104 rs1566746153 |
425 | I>V | No |
ClinGen Ensembl |
|
|
CA264031356 rs914414521 |
426 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA390542119 rs1366793311 |
427 | I>N | No |
ClinGen gnomAD |
|
|
CA7283379 rs771980956 |
427 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA264031357 rs202056854 COSM1371230 |
428 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1327622453 CA390542131 |
429 | D>V | No |
ClinGen gnomAD |
|
|
rs747517137 CA7283381 |
431 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1432677238 CA390542143 |
431 | F>L | No |
ClinGen TOPMed |
|
|
rs771437650 CA7283382 |
432 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7283384 rs759876913 |
435 | N>K | No |
ClinGen ExAC |
|
|
CA7283385 rs763746232 |
436 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA390542178 rs1224511792 |
436 | P>T | No |
ClinGen gnomAD |
|
|
rs1203249355 CA390542189 |
438 | G>R | No |
ClinGen gnomAD |
|
|
rs1259769679 CA390542195 |
439 | T>A | No |
ClinGen gnomAD |
|
|
CA390542209 rs1197617939 |
440 | M>I | No |
ClinGen TOPMed |
|
|
rs1193948625 CA390542206 |
440 | M>R | No |
ClinGen gnomAD |
|
|
rs1384898558 CA390542216 |
441 | K>N | No |
ClinGen gnomAD |
|
|
CA390542223 rs1252719243 |
442 | M>I | No |
ClinGen TOPMed |
|
|
rs985270432 CA264031358 |
442 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7283388 rs761414654 |
442 | M>V | No |
ClinGen ExAC |
|
|
CA7283390 rs749927887 |
444 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7283391 rs756046626 |
446 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs766336374 CA7283392 |
446 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs753748442 CA390542257 |
447 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs754765913 CA7283394 |
448 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA264031360 rs781108697 |
449 | K>I | No |
ClinGen Ensembl |
|
|
CA7283395 rs201329545 |
449 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs7160583 CA7283397 |
450 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748343191 CA7283396 |
450 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA390542310 rs1420217510 |
454 | Q>* | No |
ClinGen gnomAD |
|
|
rs1420217510 CA390542312 |
454 | Q>K | No |
ClinGen gnomAD |
|
|
CA7283414 rs377601048 |
454 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7283415 rs370927810 |
457 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287575214 CA390542341 |
458 | P>R | No |
ClinGen gnomAD |
|
|
rs778038565 CA7283417 |
460 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs374223623 CA7283419 COSM3711542 |
461 | Q>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs374223623 CA7283418 |
461 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373718578 CA390542373 |
463 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390542380 rs781686298 |
464 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs781686298 CA7283420 |
464 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 466 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746322813 CA7283421 |
467 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA390542412 rs1279406884 |
469 | K>E | No |
ClinGen gnomAD |
|
|
rs1307203728 CA390542420 |
470 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA390542419 rs1307203728 |
470 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA390542429 rs1202616073 |
471 | L>F | No |
ClinGen gnomAD |
|
|
CA7283423 rs780438068 |
471 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390542431 rs780438068 |
471 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267439659 CA390542436 |
472 | D>E | No |
ClinGen gnomAD |
|
|
rs375545672 CA264031480 |
472 | D>G | No |
ClinGen ESP |
|
|
rs370995005 CA7283425 |
472 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370995005 CA390542433 |
472 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1481696121 CA390542442 |
473 | E>G | No |
ClinGen gnomAD |
|
|
rs200364336 CA7283426 |
473 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7283428 rs201031570 |
474 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs910429710 CA264031481 |
474 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 475 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 476 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7283431 rs770528653 |
481 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7283456 rs540149154 |
485 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA390542546 rs1405775070 |
486 | M>I | No |
ClinGen gnomAD |
|
|
CA390542541 rs1157758416 |
486 | M>V | No |
ClinGen gnomAD |
|
|
rs1402366361 CA390542553 |
487 | K>R | No |
ClinGen gnomAD |
|
|
CA7283458 rs528604337 |
488 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 488 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7283459 rs756129443 |
489 | P>E | No |
ClinGen ExAC gnomAD |
No associated diseases with Q0VAA2
4 regional properties for Q0VAA2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 221 - 238 | IPR001611-1 |
| repeat | Leucine-rich repeat | 248 - 267 | IPR001611-2 |
| repeat | Leucine-rich repeat | 273 - 293 | IPR001611-3 |
| repeat | Leucine-rich repeat | 301 - 323 | IPR001611-4 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHIQFPSKPT | LPRACWEGRI | TAGSPGMPPD | EIEIEPVRQS | SDKMLYCEAE | SPPTVEKVKP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARENSETDLE | IEDDEKFFTT | GQKELYLEAC | KLMGVVPVSY | FIRNMEESYV | NLNHHGLGPR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GTKAIAIALV | SNMAVTKLEL | EDNCIMEEGV | LSLVEMLQEN | YYLQEMNISN | NHLGLEGARI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ISDFFERNSS | SIWSLELSGN | DFKEDSAALL | CQALSTNYQI | KKLDLSHNQF | SDVGGEHLGQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MLAINVGLTS | LDLSWNNFHT | RGAVALCNGL | RGNVTLTKLD | LSMNGFGNEV | ALALGEVLRL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NRCLVYLDIG | GNDIGNEGAS | KISKGLESNE | SLRVLKLFLN | PINMDGAILL | ILAIKRNPKS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RMEELDISNV | LVSEQFMKTL | DGVYAVHPQL | DVVFKAVQGL | SPKKTIFLLT | NPMKLIQSYA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DQHKITIVDF | FKSLNPTGTM | KMSVDEFQKV | MIEQNKVPLN | QYQVREVIKK | LDEKTGMVNF |
| SFLNTMKP |