Q6P3S1
SS
Gene name |
DENND1B |
Protein name |
DENN domain-containing protein 1B |
Names |
Connecdenn 2, Protein FAM31B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:163486 |
EC number |
|
Protein Class |
|
Descriptions
Connecdenn 1/2 are DENN (differentially expressed in normal and neoplastic cells) domain-bearing proteins that function as GEFs (guanine nucleotide exchange factors) for the small GTPase Rab35. According to a study with its mouse homolog, Dennd1a, through an intramolecular interaction the C-terminal region of connecdenn 1 obstructs substrate binding and reduce GEF activity. In the case of connecdenn 1, this activity is mediated by interaction of the DENN domain with a C-terminal region containing Ser-536 and Ser-538.
Autoinhibitory domains (AIDs)
Target domain |
14-395 (DENN domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q6P3S1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3TW8 | X-ray | 210 A | A/C | 1-410 | PDB |
| AF-Q6P3S1-F1 | Predicted | AlphaFoldDB |
575 variants for Q6P3S1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs549950873 CA1313375 |
3 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344091003 rs1571714522 |
3 | C>Y | No |
ClinGen Ensembl |
|
|
rs1439576472 CA344090985 |
6 | K>Q | No |
ClinGen gnomAD |
|
|
CA1313362 rs747396998 |
7 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1390107699 CA344090949 |
9 | P>S | No |
ClinGen gnomAD |
|
|
rs1169296291 CA344090925 |
12 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA344090927 rs1169296291 |
12 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1187153538 CA344090897 |
16 | V>A | No |
ClinGen gnomAD |
|
|
CA344090870 rs1257948608 |
20 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA36080268 rs1026596306 |
21 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs930856878 CA36080266 |
22 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1331121050 CA344089048 |
28 | D>E | No |
ClinGen gnomAD |
|
|
rs763340758 CA1313269 |
28 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA344089041 COSM3385593 COSM3385592 rs1412153272 |
29 | P>S | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA1313268 rs753013789 |
30 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA344089022 rs1171685283 |
31 | V>I | No |
ClinGen TOPMed |
|
|
CA1313267 rs765779805 |
34 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1294797407 CA344088948 |
35 | F>Y | No |
ClinGen gnomAD |
|
|
CA1313266 rs760003500 |
37 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344088896 rs1357603688 |
38 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs542442784 CA36074023 |
39 | F>L | No |
ClinGen gnomAD |
|
|
CA344088838 rs964004640 |
42 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs964004640 CA36074022 |
42 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA344086800 rs1282458112 COSM1583916 COSM901806 |
43 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1313238 rs767327145 |
44 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA344086784 rs1340888078 |
44 | I>R | No |
ClinGen gnomAD |
|
|
CA1313239 rs772729061 |
44 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761554377 CA1313237 |
47 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1311025397 CA344086707 |
49 | P>L | No |
ClinGen gnomAD |
|
|
CA1313235 rs76182569 |
50 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs923041616 CA36070067 |
54 | P>S | No |
ClinGen Ensembl |
|
|
CA1313232 rs201455013 |
57 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747110406 CA1313231 |
58 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA344086399 rs1290689518 |
67 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA36069884 rs897607035 |
68 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs976353916 CA36069883 |
70 | T>S | No |
ClinGen TOPMed |
|
|
rs1449421419 CA344086354 |
74 | T>A | No |
ClinGen gnomAD |
|
|
CA1313213 rs769663512 |
74 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1195081 rs376616839 COSM1195082 CA1313212 |
75 | D>G | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1210013666 CA344086349 |
75 | D>N | No |
ClinGen gnomAD |
|
|
rs186753729 CA1313211 |
76 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1313209 rs748156222 |
77 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313208 rs779135577 |
78 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768871784 CA1313206 |
82 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs749663976 CA1313205 |
84 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396962867 CA344086271 |
86 | R>G | No |
ClinGen gnomAD |
|
|
CA1313204 rs780433727 |
87 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313203 rs756637931 |
88 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344086241 rs1179180865 |
91 | G>D | No |
ClinGen TOPMed |
|
|
rs781737648 CA1313201 |
91 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1572268024 CA344086233 |
92 | T>I | No |
ClinGen Ensembl |
|
|
rs756861665 CA1313200 |
93 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344086218 rs1469532519 |
95 | L>I | No |
ClinGen gnomAD |
|
|
CA344086207 rs1207192234 |
96 | C>S | No |
ClinGen gnomAD |
|
|
CA344086204 rs1464760437 |
96 | C>W | No |
ClinGen gnomAD |
|
|
CA344086208 rs1207192234 |
96 | C>Y | No |
ClinGen gnomAD |
|
|
CA344086171 rs1211652653 |
99 | S>R | No |
ClinGen gnomAD |
|
|
CA344086158 rs1350097633 |
101 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA344086157 rs1350097633 |
101 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751160154 CA36068473 |
102 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313178 rs751160154 |
102 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344086115 rs1469792617 |
107 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA344086117 rs1362927275 |
107 | Y>C | No |
ClinGen gnomAD |
|
|
CA344086107 rs1408319966 |
108 | Y>* | No |
ClinGen TOPMed |
|
|
CA1313176 rs758040937 |
108 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36068472 rs765029922 |
109 | K>R | No |
ClinGen TOPMed |
|
|
CA36068471 rs765029922 |
109 | K>T | No |
ClinGen TOPMed |
|
|
CA344086092 rs1313449432 |
111 | L>P | No |
ClinGen gnomAD |
|
|
CA344086080 rs1436538156 |
113 | T>A | No |
ClinGen gnomAD |
|
|
CA344086079 rs1436538156 |
113 | T>S | No |
ClinGen gnomAD |
|
|
rs373239454 CA1313173 |
118 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410114119 CA344086037 |
119 | A>G | No |
ClinGen gnomAD |
|
|
rs1558367045 COSM901803 COSM1583919 CA344086027 |
121 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs753579094 CA1313172 |
122 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1313153 rs754601251 |
125 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA344090772 rs754601251 |
125 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA36067831 rs916826934 |
128 | E>D | No |
ClinGen Ensembl |
|
|
rs753673713 CA1313152 |
130 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA344090737 rs753673713 |
130 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1572200565 CA344090725 |
132 | S>P | No |
ClinGen Ensembl |
|
|
CA1313147 rs199778190 |
134 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767320034 CA1313148 |
134 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1374817661 CA344090701 |
136 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1452193535 CA344090692 |
137 | P>A | No |
ClinGen gnomAD |
|
|
rs1310107769 CA344090683 |
138 | V>A | No |
ClinGen Ensembl |
|
|
CA36067829 rs1024117585 |
139 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs775413372 CA1313146 |
139 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs992648738 CA36067828 |
141 | A>S | No |
ClinGen TOPMed |
|
|
CA1313145 rs765599500 |
141 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759837297 CA1313144 |
142 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1313143 rs777197864 |
142 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1313142 rs368753178 |
143 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420223535 CA344090653 |
144 | P>S | No |
ClinGen gnomAD |
|
|
CA344090648 rs1410174988 |
145 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747306969 CA1313141 |
146 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA1313140 rs773797479 |
147 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313138 rs747740394 |
148 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA1313139 rs747740394 |
148 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1215308888 CA344090623 |
149 | V>M | No |
ClinGen gnomAD |
|
|
rs989110216 CA36067259 |
153 | I>M | No |
ClinGen TOPMed |
|
|
rs1572181658 CA344090438 |
153 | I>T | No |
ClinGen Ensembl |
|
|
rs1572181669 CA344090442 |
153 | I>V | No |
ClinGen Ensembl |
|
|
CA344090415 rs1445350311 |
157 | C>R | No |
ClinGen TOPMed |
|
|
CA344090413 rs1209492525 |
157 | C>Y | No |
ClinGen gnomAD |
|
|
CA1313123 rs773425124 |
162 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs772673834 CA1313122 |
163 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1364010032 CA344090365 |
164 | Q>* | No |
ClinGen gnomAD |
|
|
rs1433837051 CA344090353 |
166 | A>T | No |
ClinGen TOPMed |
|
|
rs762222227 CA1313121 |
166 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344090347 rs1383184127 |
167 | L>V | No |
ClinGen gnomAD |
|
|
CA344090339 rs1345425139 |
168 | V>A | No |
ClinGen TOPMed |
|
|
rs560013540 CA36067258 |
169 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1356731439 CA344090307 |
171 | S>F | No |
ClinGen gnomAD |
|
|
CA1313108 rs753916777 |
173 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs766754053 CA36067134 |
174 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313107 rs766754053 |
174 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168672193 CA344090281 |
175 | A>D | No |
ClinGen gnomAD |
|
|
CA344090283 rs1168672193 |
175 | A>G | No |
ClinGen gnomAD |
|
|
CA1313105 rs750864625 |
176 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs767759521 CA344090269 |
177 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1313104 rs767759521 |
177 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA344090265 rs1259600608 |
178 | V>A | No |
ClinGen gnomAD |
|
|
CA1313103 rs762178688 |
178 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769103915 CA1313101 |
179 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1250651227 CA344090256 |
180 | G>R | No |
ClinGen gnomAD |
|
|
rs762500037 CA1313100 |
181 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs367867085 CA1313099 |
182 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1313097 rs182534827 |
183 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344090233 rs751607751 |
183 | T>I | No |
ClinGen gnomAD |
|
|
rs751607751 CA36067133 |
183 | T>K | No |
ClinGen gnomAD |
|
|
CA1313098 rs182534827 |
183 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1313096 rs780844200 |
184 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA344090230 rs1233120038 |
184 | I>V | No |
ClinGen gnomAD |
|
|
CA344090198 rs1335198129 |
186 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1039192247 CA36067132 |
186 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA344090212 rs1039192247 |
186 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1432429069 CA344090192 |
187 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs746775748 CA1313094 |
187 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA344089692 rs1280201334 |
188 | R>S | No |
ClinGen gnomAD |
|
|
CA1313081 rs370984373 |
189 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369020878 CA344089660 |
191 | T>R | No |
ClinGen gnomAD |
|
|
CA344089615 rs1424058132 |
195 | V>I | No |
ClinGen TOPMed |
|
|
COSM352869 rs759023347 CA1313078 |
197 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA344089576 rs1400038600 |
199 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA344089564 rs770565052 |
200 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1308574108 CA344089565 |
200 | N>S | No |
ClinGen TOPMed |
|
|
CA344089550 rs1193827757 |
202 | M>I | No |
ClinGen gnomAD |
|
|
CA1313074 rs773109086 |
202 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs546559211 CA1313075 |
202 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1313072 rs748083606 |
206 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA344089515 rs1260226258 |
208 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1313071 rs778851962 |
208 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA344089505 rs1206938572 |
209 | M>T | No |
ClinGen gnomAD |
|
|
rs1345764868 CA344089491 |
211 | H>R | No |
ClinGen gnomAD |
|
|
CA344089495 rs1295847186 |
211 | H>Y | No |
ClinGen TOPMed |
|
|
CA344089484 rs1341917456 |
212 | E>G | No |
ClinGen TOPMed |
|
|
rs1235222394 CA344089487 |
212 | E>K | No |
ClinGen gnomAD |
|
|
CA36066791 rs941660294 |
213 | R>G | No |
ClinGen gnomAD |
|
|
rs1429830003 CA344089468 |
214 | R>H | No |
ClinGen gnomAD |
|
|
CA344089463 rs1326924787 |
215 | I>V | No |
ClinGen gnomAD |
|
|
CA344089437 rs7546381 |
216 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_035055 rs7546381 CA1313066 |
216 | V>M | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs764431576 CA1313065 |
217 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA344089398 rs1173718591 |
219 | S>L | No |
ClinGen gnomAD |
|
|
CA1313062 rs765730218 |
220 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1313061 rs758986903 |
223 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1269554013 CA344087714 |
226 | T>I | No |
ClinGen TOPMed |
|
|
CA344087713 rs1487374727 |
227 | A>P | No |
ClinGen TOPMed |
|
|
CA344087684 rs1370476330 |
229 | I>T | No |
ClinGen gnomAD |
|
|
rs987382829 CA36063892 |
229 | I>V | No |
ClinGen TOPMed |
|
|
CA344087648 rs1297117613 |
231 | G>A | No |
ClinGen gnomAD |
|
|
rs1297117613 CA344087646 |
231 | G>V | No |
ClinGen gnomAD |
|
|
rs1558311312 CA344087642 |
232 | S>P | No |
ClinGen Ensembl |
|
|
CA1313047 rs376477212 |
235 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753015683 CA1313046 |
237 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344087556 rs1460244462 |
239 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs779340667 CA1313045 |
239 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs371820117 CA1313044 |
240 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552719135 CA1313042 |
244 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36063891 rs986380251 |
245 | Y>C | No |
ClinGen Ensembl |
|
|
rs1470625374 CA344087409 |
246 | I>M | No |
ClinGen gnomAD |
|
|
CA344087400 rs1165576292 |
247 | P>L | No |
ClinGen TOPMed |
|
|
CA1313039 rs370088694 |
248 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1313040 rs553948934 |
248 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202109576 CA36063890 |
250 | P>A | No |
ClinGen Ensembl |
|
|
CA1313038 rs761748782 |
252 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs761748782 CA344087360 |
252 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774164360 CA1313037 |
254 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs762933089 CA1313035 |
256 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA344087204 rs1434335682 |
260 | P>S | No |
ClinGen gnomAD |
|
|
rs762585711 CA1313018 |
261 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313016 rs764472552 |
263 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA344087181 rs1466617877 |
263 | Y>C | No |
ClinGen gnomAD |
|
|
rs769665397 CA1313015 |
264 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186978274 CA344087169 |
265 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760796868 CA1313014 |
267 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA344087149 rs1254775875 |
268 | H>L | No |
ClinGen gnomAD |
|
|
rs1326637011 CA344087121 |
272 | I>R | No |
ClinGen TOPMed |
|
|
CA344087096 rs1320595096 |
274 | R>I | No |
ClinGen gnomAD |
|
|
CA344087092 rs759468236 |
275 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1312993 rs759468236 |
275 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1373387486 CA344087077 |
277 | N>S | No |
ClinGen TOPMed |
|
|
rs1463380642 CA344087071 |
278 | K>E | No |
ClinGen TOPMed |
|
|
rs1314949882 CA344087067 |
278 | K>I | No |
ClinGen gnomAD |
|
|
CA344087051 rs1389889330 |
281 | E>K | No |
ClinGen gnomAD |
|
|
rs773340401 CA1312992 |
282 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1312989 rs774666196 |
285 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA1312991 rs767598928 |
285 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312990 rs774666196 |
285 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA344087023 rs767598928 |
285 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344087018 rs1392054839 |
286 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs926580587 CA36062859 |
290 | T>K | No |
ClinGen TOPMed |
|
|
rs1338524957 CA344086971 |
292 | T>I | No |
ClinGen TOPMed |
|
|
rs1164805797 CA344086949 |
296 | P>T | No |
ClinGen gnomAD |
|
|
CA1312987 rs139214348 |
300 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344086901 rs1572047404 |
302 | N>S | No |
ClinGen Ensembl |
|
|
CA344086888 rs1291669729 |
304 | P>L | No |
ClinGen TOPMed |
|
|
rs1291669729 CA344086889 |
304 | P>R | No |
ClinGen TOPMed |
|
|
rs189550389 CA1312986 |
304 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370115142 CA1312985 |
305 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA344086884 rs1418136561 |
305 | S>T | No |
ClinGen gnomAD |
|
|
rs746389045 CA1312984 |
306 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs746389045 CA344086874 |
306 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs781735568 CA1312983 |
307 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781735568 CA344086870 |
307 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312962 rs554571516 |
309 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202173941 CA344086840 |
310 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312960 rs777146463 |
310 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202173941 CA1312959 |
310 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312958 rs747814356 |
313 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754799733 CA1312956 |
320 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1312955 rs185618166 |
321 | A>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs370344623 CA1312954 |
322 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1312950 rs763058330 |
323 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312951 rs764093196 |
323 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1395398851 CA344086706 |
324 | D>N | No |
ClinGen TOPMed |
|
|
rs752996042 CA1312949 |
327 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344086655 rs1166603411 |
328 | R>S | No |
ClinGen TOPMed |
|
|
rs548067287 CA1312948 |
329 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776826776 CA1312946 |
331 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312945 rs771538170 |
332 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA344086608 rs1218960195 |
333 | A>V | No |
ClinGen gnomAD |
|
|
CA1312944 rs201071193 |
335 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs201071193 CA344086590 |
335 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA36061599 rs17852101 |
340 | S>Y | No |
ClinGen Ensembl |
|
|
rs771490441 CA1312942 |
341 | Y>C | No |
ClinGen ExAC |
|
|
CA344086506 rs1346790438 |
343 | D>G | No |
ClinGen gnomAD |
|
|
CA36061598 rs977279490 |
343 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs977279490 CA344086509 |
343 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1435952722 CA344086496 |
345 | L>M | No |
ClinGen TOPMed |
|
|
CA344086489 rs1326853235 |
346 | R>K | No |
ClinGen TOPMed |
|
|
CA344086480 rs1451568400 |
347 | Y>C | No |
ClinGen gnomAD |
|
|
rs1558284715 CA344086476 |
348 | K>Q | No |
ClinGen Ensembl |
|
|
CA1312941 rs747618601 |
349 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1279975389 CA344084931 |
350 | G>D | No |
ClinGen gnomAD |
|
|
rs1231405980 CA528429408 |
351 | E>P | No |
ClinGen gnomAD |
|
|
rs773820717 CA1312921 |
354 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA344084900 rs1352458210 |
355 | F>V | No |
ClinGen gnomAD |
|
|
CA1312919 rs748953172 |
356 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs775140401 CA1312918 |
358 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344084877 rs1266627274 |
358 | E>V | No |
ClinGen TOPMed |
|
|
CA1312917 rs769507563 |
364 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1312916 rs543544965 |
364 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1312915 rs781038103 |
365 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1312913 rs371012442 |
366 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1312912 rs779126393 |
367 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755055227 CA1312911 |
368 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA344084812 rs1473886793 |
368 | M>V | No |
ClinGen gnomAD |
|
|
CA344084781 rs1477534240 |
372 | L>M | No |
ClinGen TOPMed |
|
|
rs1181402922 CA344084778 |
372 | L>P | No |
ClinGen gnomAD |
|
|
rs188265506 CA1312910 |
374 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1312909 rs766586106 |
376 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1312889 rs199806691 |
385 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3400164 rs756328709 COSM3400163 CA1312887 |
386 | D>N | central_nervous_system breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs750820201 CA1312886 |
387 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs767881202 CA1312885 COSM678294 COSM1146123 |
388 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1668337 CA1312884 COSM1668338 rs757551222 |
388 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1312882 rs764533924 |
391 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208164775 CA344083900 |
393 | N>H | No |
ClinGen TOPMed |
|
|
rs752218045 CA1312880 |
394 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312881 rs752218045 |
394 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312878 rs759209652 |
395 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA36056981 rs926352810 |
396 | R>K | No |
ClinGen TOPMed |
|
|
rs776368089 CA1312877 |
397 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1484891184 COSM1718592 COSM1718593 CA344083862 |
399 | S>F | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs373014047 CA1312876 |
400 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344083860 rs1439956184 |
400 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs959391043 CA36056980 |
401 | V>G | No |
ClinGen TOPMed |
|
|
rs773308113 CA1312873 |
405 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs980512167 CA36056979 |
406 | I>F | No |
ClinGen TOPMed |
|
|
rs772026280 CA1312872 |
406 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312871 rs780178066 |
409 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780178066 CA344083800 |
409 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780178066 CA1312870 |
409 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200625752 CA1312869 |
412 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1312868 rs550512768 |
413 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344083775 rs1405659204 |
413 | G>R | No |
ClinGen TOPMed |
|
|
rs1362573315 CA344083770 |
414 | G>R | No |
ClinGen gnomAD |
|
|
CA344083604 rs1467122078 |
418 | S>L | No |
ClinGen gnomAD |
|
|
CA344083564 rs1469959600 |
422 | W>R | No |
ClinGen TOPMed |
|
|
rs1186303809 CA344083551 |
423 | V>M | No |
ClinGen gnomAD |
|
|
CA1312854 rs189847295 |
424 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs932099380 CA36056307 |
427 | K>E | No |
ClinGen Ensembl |
|
|
rs1156421648 CA344083446 |
429 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1438700169 CA344083156 |
430 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1312847 rs371976914 |
431 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371976914 CA344083151 |
431 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344083077 rs1483814799 |
437 | M>I | No |
ClinGen gnomAD |
|
|
CA1312842 rs779250596 |
437 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs372276051 CA1312841 |
439 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753379735 CA1312840 |
443 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA344083023 rs753379735 |
443 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA344083018 rs1448775385 |
444 | V>L | No |
ClinGen gnomAD |
|
|
rs368762010 CA36056243 |
445 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1312838 rs140468398 |
445 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750303409 CA1312837 |
446 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs767358780 CA1312836 |
446 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1312833 rs763915431 |
448 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437780072 CA344082977 |
449 | K>E | No |
ClinGen TOPMed |
|
|
CA344082975 rs759652012 |
449 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759652012 CA1312832 |
449 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775346873 CA1312814 |
453 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1288720678 CA344082934 |
453 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs554155404 CA1312811 |
454 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1312812 rs554155404 |
454 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1312813 rs766449253 |
454 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1408186468 CA344082911 |
457 | L>M | No |
ClinGen Ensembl |
|
|
CA344082897 rs1218988457 |
459 | L>Q | No |
ClinGen gnomAD |
|
|
rs1571800235 CA344082877 |
462 | V>L | No |
ClinGen Ensembl |
|
|
rs774576677 CA1312808 |
463 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA344082868 rs1346897691 |
463 | K>N | No |
ClinGen gnomAD |
|
|
CA1312809 rs774576677 |
463 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1472011736 CA344082828 |
469 | K>Q | No |
ClinGen TOPMed |
|
|
CA344082811 rs1318589002 |
470 | E>* | No |
ClinGen gnomAD |
|
|
CA344082803 rs1259399238 |
471 | N>D | No |
ClinGen gnomAD |
|
|
CA1312795 rs752659960 |
472 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs752659960 CA344082793 |
472 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA1312794 rs542289713 |
473 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760794978 CA1312792 |
475 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs767851430 CA1312790 |
477 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312789 rs761928256 |
477 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs774576552 CA344082756 |
478 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA1312788 rs774576552 |
478 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA344082754 rs1442067382 |
478 | C>S | No |
ClinGen TOPMed |
|
|
CA344082753 rs1442067382 |
478 | C>Y | No |
ClinGen TOPMed |
|
|
CA344082747 rs1413182201 |
479 | S>C | No |
ClinGen gnomAD |
|
|
CA1312787 rs374013943 |
479 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344082750 rs374013943 |
479 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163983682 CA344082739 |
480 | S>R | No |
ClinGen gnomAD |
|
|
CA1312785 rs776186846 |
482 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763360216 CA1312786 |
482 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA344082725 rs1177828931 |
483 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA344082722 rs1458131382 |
483 | Q>L | No |
ClinGen gnomAD |
|
|
rs1571796321 CA344082718 |
484 | Y>H | No |
ClinGen Ensembl |
|
|
CA36055597 rs770524651 |
485 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs745449903 CA1312783 |
485 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs770411994 CA1312781 |
486 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs895011440 CA36055596 |
487 | V>L | No |
ClinGen Ensembl |
|
|
CA1312779 rs777362139 |
491 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs758213919 CA1312778 |
492 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA36055595 rs370579306 |
492 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1239932282 CA344082664 |
492 | N>S | No |
ClinGen gnomAD |
|
|
rs377664050 CA1312777 |
495 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1436030772 CA344082640 |
496 | G>R | No |
ClinGen TOPMed |
|
|
CA344082624 rs1349366011 |
498 | S>A | No |
ClinGen gnomAD |
|
|
rs1324344378 CA344082623 |
498 | S>L | No |
ClinGen gnomAD |
|
|
rs1426757887 CA344082616 |
499 | E>G | No |
ClinGen gnomAD |
|
|
rs750574845 CA344082603 |
501 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140388741 CA1312772 |
501 | R>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1312773 rs140388741 |
501 | R>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs750574845 CA1312774 |
501 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409909252 CA344082598 |
502 | K>T | No |
ClinGen gnomAD |
|
|
CA344082591 rs1189335797 |
503 | L>F | No |
ClinGen gnomAD |
|
|
CA36055592 rs920690747 |
503 | L>P | No |
ClinGen Ensembl |
|
|
CA1312769 rs571739697 |
504 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144900954 CA1312747 |
507 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1312746 rs573965743 |
507 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA35923122 rs866631187 |
510 | R>S | No |
ClinGen Ensembl |
|
|
CA344048911 rs1300834164 |
511 | P>S | No |
ClinGen gnomAD |
|
|
CA344048878 rs1465327632 |
513 | K>R | No |
ClinGen gnomAD |
|
|
CA344048850 rs1178416154 |
514 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA344048819 rs1332333753 |
516 | D>G | No |
ClinGen gnomAD |
|
|
CA344048800 rs1422271524 |
517 | G>D | No |
ClinGen gnomAD |
|
|
CA344048790 rs1571688416 |
518 | A>S | No |
ClinGen Ensembl |
|
|
CA35923109 rs969631561 |
518 | A>V | No |
ClinGen Ensembl |
|
|
rs1292454486 CA344048775 |
519 | L>P | No |
ClinGen gnomAD |
|
|
CA35923107 rs975871201 |
519 | L>V | No |
ClinGen TOPMed |
|
|
CA1312743 rs771774066 |
520 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1312742 rs747812343 |
522 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1429892133 CA344048725 |
522 | D>Y | No |
ClinGen gnomAD |
|
|
rs773927093 CA1312740 |
525 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1244138977 CA344048614 |
527 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1206120481 CA344048564 |
528 | I>T | No |
ClinGen gnomAD |
|
|
rs768369179 CA1312739 |
529 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA35923079 rs375718950 |
530 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs749064984 CA1312738 |
531 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1312736 rs756072671 |
532 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344048264 rs1424186709 |
534 | L>F | No |
ClinGen TOPMed |
|
|
CA344048231 rs1292497843 |
536 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA344048185 rs1178471455 |
539 | G>S | No |
ClinGen TOPMed |
|
|
CA344048157 rs1398442494 |
540 | E>K | No |
ClinGen TOPMed |
|
|
rs755227359 CA1312710 |
541 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312708 rs527950252 |
547 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1312707 rs560684509 |
549 | S>N | No |
ClinGen 1000Genomes ExAC |
|
|
CA35922192 rs927897381 |
551 | D>G | No |
ClinGen TOPMed |
|
|
CA35922143 rs545592966 |
553 | V>A | No |
ClinGen 1000Genomes |
|
|
rs529327215 CA35922157 |
553 | V>I | No |
ClinGen TOPMed |
|
|
CA35922151 rs529327215 |
553 | V>L | No |
ClinGen TOPMed |
|
|
rs761364795 CA1312703 |
557 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs767965045 CA1312704 |
557 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs116717232 CA1312702 |
560 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344047713 rs10494755 |
563 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs10494755 CA1312701 |
563 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1490542166 CA344047693 |
565 | M>V | No |
ClinGen gnomAD |
|
|
rs965710896 CA35922134 |
566 | D>E | No |
ClinGen Ensembl |
|
|
CA344047675 rs1294157670 |
566 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1294157670 CA344047670 |
566 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA344047596 rs1279993360 |
570 | E>K | No |
ClinGen gnomAD |
|
|
CA1312698 rs372013667 |
572 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1312699 rs372013667 |
572 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344047532 rs1299957366 |
574 | T>K | No |
ClinGen gnomAD |
|
|
rs1366923244 CA344047478 |
577 | T>A | No |
ClinGen gnomAD |
|
|
CA344047460 rs1474826766 |
578 | H>P | No |
ClinGen gnomAD |
|
|
rs1246098128 CA344047449 |
579 | S>G | No |
ClinGen TOPMed |
|
|
CA344047422 rs1418721846 |
581 | D>N | No |
ClinGen gnomAD |
|
|
CA1312694 rs375637022 |
586 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770958138 CA1312695 |
586 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376388407 CA344047280 |
588 | A>G | No |
ClinGen gnomAD |
|
|
rs1471424124 CA344047286 |
588 | A>T | No |
ClinGen gnomAD |
|
|
CA35922061 rs1021225438 |
590 | S>N | No |
ClinGen Ensembl |
|
|
rs34213899 CA35922056 |
593 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs376577432 CA35922050 |
595 | R>K | No |
ClinGen Ensembl |
|
|
CA1312692 rs768565376 |
595 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1312691 rs749534710 |
596 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1312690 RCV000884283 rs78578977 |
597 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1312689 rs771408501 |
598 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA344047145 rs1206718756 |
599 | D>G | No |
ClinGen gnomAD |
|
|
CA344047136 rs1224063370 |
600 | I>T | No |
ClinGen gnomAD |
|
|
rs553628348 CA1312686 |
600 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751951954 CA1312685 |
604 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200671323 CA1312684 |
605 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA35921340 rs1033280834 |
608 | S>C | No |
ClinGen TOPMed |
|
|
rs1255567126 CA344046450 |
609 | N>S | No |
ClinGen gnomAD |
|
|
rs1351931491 CA344046434 |
610 | A>V | No |
ClinGen TOPMed |
|
|
CA344046411 rs1217441452 |
612 | S>T | No |
ClinGen gnomAD |
|
|
rs1261971880 CA344046394 |
613 | E>D | No |
ClinGen TOPMed |
|
|
CA1312670 rs749278941 |
613 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775739453 CA1312669 |
614 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1312668 rs769974808 |
620 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA35921298 rs1001897624 |
621 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1408996430 CA344046228 |
622 | G>V | No |
ClinGen gnomAD |
|
|
rs572485651 CA35921294 |
623 | S>T | No |
ClinGen gnomAD |
|
|
CA35921289 rs915755051 |
624 | G>C | No |
ClinGen Ensembl |
|
|
CA35921276 rs906254417 |
624 | G>D | No |
ClinGen TOPMed |
|
|
CA1312667 rs746287829 |
627 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs781549383 CA1312666 |
628 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1312665 rs367727663 |
629 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1312664 rs747583126 |
630 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs866370538 CA35921224 |
631 | L>P | No |
ClinGen Ensembl |
|
|
CA344045961 rs1422805576 |
631 | L>V | No |
ClinGen TOPMed |
|
|
rs1462509810 CA344045933 |
632 | G>E | No |
ClinGen gnomAD |
|
|
CA344045875 rs1387068687 |
634 | D>N | No |
ClinGen TOPMed |
|
|
rs757972002 CA1312662 |
635 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA35921204 rs867535810 |
640 | G>D | No |
ClinGen Ensembl |
|
|
rs1385470774 CA344045620 |
644 | P>L | No |
ClinGen gnomAD |
|
|
rs374206079 CA1312659 |
644 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1329836489 CA344045615 |
645 | P>A | No |
ClinGen gnomAD |
|
|
rs1442124404 CA344045582 |
646 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1355182491 CA344045570 |
647 | P>S | No |
ClinGen gnomAD |
|
|
rs1378492105 CA344045552 |
648 | R>W | No |
ClinGen TOPMed |
|
|
CA35921149 rs577766481 |
650 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1312657 rs577766481 |
650 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA35921153 rs899763529 |
650 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1252372663 CA344045487 |
651 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA344045481 rs1252372663 |
651 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA35921115 rs373405187 |
653 | S>F | No |
ClinGen Ensembl |
|
|
CA344045414 rs1217492988 |
655 | G>S | No |
ClinGen TOPMed |
|
|
CA344045408 rs1253926417 |
655 | G>V | No |
ClinGen TOPMed |
|
|
rs1378251416 CA344045347 |
657 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1378251416 CA344045352 |
657 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767336451 CA1312654 |
658 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1312653 rs763135103 |
660 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344045291 rs763135103 |
660 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312651 rs769803875 |
663 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775545344 CA1312652 |
663 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312650 rs370543741 |
664 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776789710 CA1312649 |
666 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344045143 rs1276841152 |
668 | S>G | No |
ClinGen gnomAD |
|
|
rs1232229739 CA344045086 |
670 | K>T | No |
ClinGen gnomAD |
|
|
rs1361955353 CA344045055 |
671 | H>Q | No |
ClinGen gnomAD |
|
|
rs771349724 CA1312648 |
671 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs368092793 CA35921037 |
673 | G>S | No |
ClinGen ESP TOPMed |
|
|
CA35921034 rs1008490388 |
674 | A>V | No |
ClinGen Ensembl |
|
|
rs144847167 CA1312646 |
675 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344044953 rs1558185819 |
676 | N>S | No |
ClinGen Ensembl |
|
|
rs1374762266 CA344044805 |
680 | P>R | No |
ClinGen gnomAD |
|
|
rs1302654798 CA344044821 |
680 | P>S | No |
ClinGen gnomAD |
|
|
CA344044782 rs1281809333 |
681 | T>A | No |
ClinGen gnomAD |
|
|
CA344044721 rs747721108 |
682 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312644 rs747721108 |
682 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375948772 CA344044587 |
686 | F>L | No |
ClinGen TOPMed |
|
|
CA344044577 rs1426864032 |
687 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1312642 rs754471773 |
687 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1426864032 CA344044583 |
687 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1312640 rs766085438 |
689 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753576074 CA1312641 |
689 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA344044524 rs766085438 |
689 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571679199 CA344044487 |
691 | P>S | No |
ClinGen Ensembl |
|
|
CA1312638 rs555482051 |
692 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375157596 CA1312636 |
694 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487139340 CA344044281 |
697 | D>H | No |
ClinGen gnomAD |
|
|
CA344044256 rs1259313624 |
697 | D>V | No |
ClinGen gnomAD |
|
|
CA344044241 rs1215468003 |
698 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs774204442 CA1312635 |
699 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA344044147 rs1370149869 |
700 | K>E | No |
ClinGen Ensembl |
|
|
CA344044024 rs1233435866 |
704 | R>G | No |
ClinGen TOPMed |
|
|
rs1189281035 CA344043913 |
707 | L>V | No |
ClinGen TOPMed |
|
|
CA344043847 rs1344960958 |
708 | S>N | No |
ClinGen gnomAD |
|
|
rs1284067911 CA344043826 |
708 | S>R | No |
ClinGen gnomAD |
|
|
CA1312632 rs533807734 |
709 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344043816 rs1406969162 |
709 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1312630 rs761167165 |
712 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA35920915 rs1034586041 |
713 | D>N | No |
ClinGen TOPMed |
|
|
CA344043680 rs1431134785 |
714 | L>V | No |
ClinGen gnomAD |
|
|
CA1312629 rs773433361 |
715 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs772425181 CA344043602 |
717 | P>A | No |
ClinGen ExAC TOPMed |
|
|
rs761601269 CA1312627 |
717 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312628 rs772425181 |
717 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA344043574 rs1434718445 |
718 | G>D | No |
ClinGen TOPMed |
|
|
CA1312625 rs768304710 |
718 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1312624 rs748788909 |
719 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312623 rs779800670 |
720 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1312621 rs140620253 |
721 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1312622 rs143462572 |
721 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1312620 rs780851787 |
722 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA35920843 rs934382589 |
723 | S>* | No |
ClinGen Ensembl |
|
|
rs757003485 CA1312619 |
723 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA344043448 rs1213502120 |
724 | S>L | No |
ClinGen TOPMed |
|
|
CA1312615 rs753909022 |
726 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267904131 CA344043391 |
727 | V>A | No |
ClinGen TOPMed |
|
|
CA344043385 rs773379564 |
728 | P>A | No |
ClinGen TOPMed |
|
|
CA35920800 rs773379564 |
728 | P>T | No |
ClinGen TOPMed |
|
|
CA1312613 rs766679906 |
731 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344043329 rs1261368020 |
731 | K>R | No |
ClinGen TOPMed |
|
|
CA35920777 rs200236372 |
732 | E>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs538571059 CA1312612 |
732 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1338644420 CA344043214 |
736 | A>V | No |
ClinGen gnomAD |
|
|
rs1372001031 CA344043190 |
737 | K>N | No |
ClinGen gnomAD |
|
|
CA1312610 rs772355116 |
737 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA344043164 rs1558185140 |
738 | E>Q | No |
ClinGen Ensembl |
|
|
rs1170700024 CA344043138 |
739 | T>S | No |
ClinGen gnomAD |
|
|
CA1312608 rs762220808 |
741 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769258926 CA1312606 |
743 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577884174 CA344043025 |
743 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577884174 CA1312607 |
743 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366545355 CA344042977 |
746 | L>F | No |
ClinGen TOPMed |
|
|
rs868016263 CA35920743 |
747 | H>Y | No |
ClinGen Ensembl |
|
|
CA35920717 rs991342886 |
748 | E>D | No |
ClinGen Ensembl |
|
|
rs779418746 CA1312604 |
748 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1429330915 CA344042852 |
752 | L>S | No |
ClinGen TOPMed |
|
|
rs769278385 CA1312603 |
754 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951844156 CA35920710 |
754 | H>N | No |
ClinGen Ensembl |
|
|
CA1312601 rs200343795 |
755 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1312602 rs745534795 |
755 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1312599 rs751324450 |
758 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1312600 rs371428108 |
758 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777754291 CA1312598 |
760 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs758317813 CA1312597 |
762 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284104552 CA344042538 |
765 | I>M | No |
ClinGen TOPMed |
|
|
rs1444555694 CA344042554 |
765 | I>V | No |
ClinGen gnomAD |
|
|
CA1312595 rs569364308 |
769 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1312594 rs374881007 |
771 | N>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1312593 rs141712038 |
773 | N>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1312592 rs750633201 |
774 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183490338 CA344042324 |
775 | T>I | No |
ClinGen TOPMed |
1 associated diseases with Q6P3S1
[MIM: 600807]: Asthma (ASTHMA)
The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. {ECO:0000269|PubMed:20032318, ECO:0000269|PubMed:26774822}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Asthma susceptibility is probably caused by decreased TCR down-modulation and recycling in TH2 cells, causing prolonged TCR signaling and increased cytokine production in TH2 lymphocytes (PubMed:26774822). {ECO:0000269|PubMed:26774822}.
Without disease ID
- The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. {ECO:0000269|PubMed:20032318, ECO:0000269|PubMed:26774822}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Asthma susceptibility is probably caused by decreased TCR down-modulation and recycling in TH2 cells, causing prolonged TCR signaling and increased cytokine production in TH2 lymphocytes (PubMed:26774822). {ECO:0000269|PubMed:26774822}.
3 regional properties for Q6P3S1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Toll/interleukin-1 receptor homology (TIR) domain | 552 - 695 | IPR000157 |
| domain | Sterile alpha motif domain | 405 - 472 | IPR001660-1 |
| domain | Sterile alpha motif domain | 475 - 544 | IPR001660-2 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| clathrin-coated vesicle | A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| phosphatidylinositol phosphate binding | Binding to phosphatidylinositol phosphate. |
| small GTPase binding | Binding to a small monomeric GTPase. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytic recycling | The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of T-helper 2 cell cytokine production | Any process that activates or increases the frequency, rate or extent of T-helper 2 cell cytokine production. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of immune response | Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8TEH3 | DENND1A | DENN domain-containing protein 1A | Homo sapiens (Human) | SS |
| Q8K382 | Dennd1a | DENN domain-containing protein 1A | Mus musculus (Mouse) | EV |
| Q8C4S8 | Dennd2a | DENN domain-containing protein 2A | Mus musculus (Mouse) | PR |
| Q3U1T9 | Dennd1b | DENN domain-containing protein 1B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDCRTKANPD | RTFDLVLKVK | CHASENEDPV | VLWKFPEDFG | DQEILQSVPK | FCFPFDVERV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SQNQVGQHFT | FVLTDIESKQ | RFGFCRLTSG | GTICLCILSY | LPWFEVYYKL | LNTLADYLAK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELENDLNETL | RSLYNHPVPK | ANTPVNLSVN | QEIFIACEQV | LKDQPALVPH | SYFIAPDVTG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LPTIPESRNL | TEYFVAVDVN | NMLQLYASML | HERRIVIISS | KLSTLTACIH | GSAALLYPMY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WQHIYIPVLP | PHLLDYCCAP | MPYLIGIHSS | LIERVKNKSL | EDVVMLNVDT | NTLESPFSDL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NNLPSDVVSA | LKNKLKKQST | ATGDGVARAF | LRAQAALFGS | YRDALRYKPG | EPITFCEESF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VKHRSSVMKQ | FLETAINLQL | FKQFIDGRLA | KLNAGRGFSD | VFEEEITSGG | FCGGNPRSYQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QWVHTVKKGG | ALFNTAMTKA | TPAVRTAYKF | AKNHAKLGLK | EVKSKLKHKE | NEEDYGTCSS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SVQYTPVYKL | HNEKGGNSEK | RKLAQARLKR | PLKSLDGALY | DDEDDDDIER | ASKLSSEDGE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EASAYLYESD | DSVETRVKTP | YSGEMDLLGE | ILDTLSTHSS | DQGKLAAAKS | LDFFRSMDDI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DYKPTNKSNA | PSENNLAFLC | GGSGDQAEWN | LGQDDSALHG | KHLPPSPRKR | VSSSGLTDSL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FILKEENSNK | HLGADNVSDP | TSGLDFQLTS | PEVSQTDKGK | TEKRETLSQI | SDDLLIPGLG |
| 730 | 740 | 750 | 760 | 770 | |
| RHSSTFVPWE | KEGKEAKETS | EDIGLLHEVV | SLCHMTSDFQ | QSLNISDKNT | NGNQT |