Q9ULK5
PR
Gene name |
VANGL2 (KIAA1215, STB1) |
Protein name |
Vang-like protein 2 |
Names |
Loop-tail protein 1 homolog, Strabismus 1, Van Gogh-like protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57216 |
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
424 variants for Q9ULK5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_067221 CA343283976 rs1571244916 |
84 | S>F | NTD [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000009619 VAR_067222 COSM1335519 CA120083 rs267607167 |
353 | R>C | Neural tube defects, susceptibility to Variant assessed as Somatic; 0.0 impact. large_intestine NTD; the mutant protein has diminished interaction with DVL1 compared to wild-type [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs267607168 VAR_067223 CA120084 RCV000009620 |
437 | F>S | Neural tube defects, susceptibility to NTD; the mutation protein completely abrogates interaction with DVL1 compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA343281746 rs1270566344 |
2 | D>N | No |
ClinGen gnomAD |
|
|
rs1571242125 CA343281770 |
3 | T>S | No |
ClinGen Ensembl |
|
|
rs1205774476 CA343281794 |
4 | E>A | No |
ClinGen gnomAD |
|
|
CA343281824 rs1489624193 |
6 | Q>E | No |
ClinGen gnomAD |
|
|
CA343281833 rs1198285361 |
6 | Q>P | No |
ClinGen gnomAD |
|
|
CA343281836 rs1198285361 |
6 | Q>R | No |
ClinGen gnomAD |
|
|
CA31534941 rs1057436585 |
7 | Y>H | No |
ClinGen Ensembl |
|
|
CA343281910 rs1211948369 |
10 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1211948369 CA343281907 |
10 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs895928249 CA31534948 |
11 | S>C | No |
ClinGen TOPMed |
|
|
CA343281966 rs1557908854 |
13 | K>T | No |
ClinGen Ensembl |
|
|
CA1199306 rs377216902 |
14 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 16 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31534967 rs977689463 |
16 | H>R | No |
ClinGen TOPMed |
|
|
rs1298632668 CA343282042 |
17 | S>C | No |
ClinGen TOPMed |
|
|
COSM676740 CA343282046 rs1171020146 |
18 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA343282048 rs1368433368 |
18 | R>H | No |
ClinGen TOPMed |
|
|
CA343282057 rs1482507447 |
19 | S>N | No |
ClinGen gnomAD |
|
|
COSM1270143 CA1199308 rs765036390 |
21 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA343282095 rs1424065600 |
21 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1184965423 CA343282137 |
23 | H>Q | No |
ClinGen TOPMed |
|
|
CA31534971 rs933887479 COSM898294 |
23 | H>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs766369773 CA1199329 |
26 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766369773 CA343282272 |
26 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751467341 CA1199330 |
26 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199333 rs201776714 |
27 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1199331 COSM301336 rs754493544 |
27 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs957548164 CA31535185 |
29 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs537418160 CA1199334 |
29 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754257124 CA31535190 |
30 | H>P | No |
ClinGen Ensembl |
|
|
rs141773637 CA1199335 RCV000880270 |
31 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1199336 rs574127533 |
31 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA343282352 rs574127533 |
31 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780759535 CA1199338 |
35 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1199339 rs142035303 |
35 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1199340 rs142035303 |
35 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343282415 rs1455133826 |
36 | D>V | No |
ClinGen TOPMed |
|
|
CA31535200 rs868772418 |
39 | R>* | No |
ClinGen Ensembl |
|
|
rs776707378 CA1199341 |
39 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs141931627 CA31535205 |
40 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141931627 CA1199342 |
40 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1488574047 CA343282468 |
40 | G>W | No |
ClinGen Ensembl |
|
|
rs773417946 CA1199344 |
41 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1341796265 CA343282547 |
43 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1199345 rs762776843 |
44 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA1199346 rs766138292 |
45 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774177199 CA1199347 |
48 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1229785046 CA343282646 |
48 | A>V | No |
ClinGen gnomAD |
|
|
rs759475238 CA1199348 |
49 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1199350 rs752189617 |
50 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343282678 rs1436541513 |
51 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA343282684 rs1181559520 |
52 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA31535266 rs1057164178 |
57 | E>D | No |
ClinGen Ensembl |
|
|
rs1252558820 CA343282724 |
58 | S>F | No |
ClinGen gnomAD |
|
|
rs1557909145 CA343282732 |
60 | R>* | No |
ClinGen Ensembl |
|
|
rs1197533506 CA343282733 COSM1470177 |
60 | R>Q | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs763883989 CA1199352 |
61 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753522717 CA1199353 |
61 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs780528677 CA1199355 |
62 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs780528677 CA343282744 |
62 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 63 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549818122 CA31535283 |
64 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1199356 rs139971849 |
64 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs549818122 CA343282755 |
64 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1199379 rs755293964 |
65 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA343283715 rs1488935328 CA343283713 |
67 | N>K | No |
ClinGen gnomAD |
|
|
CA1199380 rs781742166 |
68 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA343283719 rs1211843233 |
68 | W>G | No |
ClinGen gnomAD |
|
|
CA31536962 rs866712165 |
68 | W>L | No |
ClinGen TOPMed |
|
|
CA343283721 rs1211843233 |
68 | W>R | No |
ClinGen gnomAD |
|
|
CA343283771 rs1571244787 |
70 | E>G | No |
ClinGen Ensembl |
|
|
rs573346724 CA1199381 |
71 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343283796 rs1187648191 |
71 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA343283793 rs1187648191 |
71 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1199382 rs756206825 |
72 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231173062 CA343283846 |
74 | V>A | No |
ClinGen TOPMed |
|
|
rs749513714 CA1199384 |
75 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1162109340 CA343283853 |
75 | V>I | No |
ClinGen gnomAD |
|
|
rs1307221785 CA343283885 |
77 | G>S | No |
ClinGen TOPMed |
|
|
rs955709282 CA31537049 |
81 | H>R | No |
ClinGen TOPMed |
|
|
rs760652542 CA1199390 |
82 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs768288688 CA1199391 |
82 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775523535 CA1199389 |
82 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1199392 rs776224054 |
83 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA31537060 rs879107091 |
85 | H>R | No |
ClinGen Ensembl |
|
|
rs1312169138 CA343283978 |
85 | H>Y | No |
ClinGen gnomAD |
|
|
CA343283987 rs1247304427 |
86 | D>G | No |
ClinGen gnomAD |
|
|
CA1199393 rs761395406 |
86 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199395 rs149889263 |
90 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759993919 CA1199396 |
90 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343284014 rs759993919 |
90 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140250013 CA1199398 COSM898295 |
92 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA343284044 rs1164865527 |
95 | M>V | No |
ClinGen TOPMed |
|
|
rs371082262 CA1199400 |
96 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1423867685 CA343284064 |
97 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1182774305 CA343284081 |
100 | P>A | No |
ClinGen TOPMed |
|
|
rs1166225540 CA343284086 |
100 | P>L | No |
ClinGen gnomAD |
|
|
rs753974787 CA1199401 COSM308178 |
101 | L>Q | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1199402 rs757320101 |
103 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343284110 rs1391267457 |
104 | S>F | No |
ClinGen gnomAD |
|
|
CA1199403 rs779232954 |
104 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746031069 CA1199404 |
105 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373536899 CA1199405 |
105 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1199408 rs376432810 |
108 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376432810 CA1199409 |
108 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343284132 rs1229234465 |
109 | V>M | No |
ClinGen gnomAD |
|
|
CA343284148 rs761450874 |
111 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs761450874 CA1199410 |
111 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343284153 rs1207997099 |
112 | G>E | No |
ClinGen gnomAD |
|
|
rs1261151210 CA343284166 |
114 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1571245047 CA343284161 |
114 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 115 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183098328 CA343284172 |
116 | A>T | No |
ClinGen gnomAD |
|
|
CA343284177 rs1571245055 |
116 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 119 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248909860 CA343284203 |
121 | L>V | No |
ClinGen gnomAD |
|
|
rs1182443634 CA343284211 |
122 | T>K | No |
ClinGen gnomAD |
|
|
rs1182443634 CA343284210 |
122 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs990144574 CA31537134 |
122 | T>P | No |
ClinGen Ensembl |
|
|
CA343284228 rs1413096766 |
125 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA343284229 rs1413096766 |
125 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1199417 rs764650174 |
132 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 133 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757382979 CA1199420 |
135 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199421 rs370160195 |
135 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1199422 rs370160195 |
135 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757382979 CA1199419 |
135 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780411852 CA1199423 |
136 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs746867544 CA1199424 |
137 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1312712976 CA343284310 |
139 | E>D | No |
ClinGen gnomAD |
|
|
CA343284313 rs1212134349 |
140 | P>T | No |
ClinGen gnomAD |
|
|
rs754790677 CA1199425 |
142 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1232179 CA31537210 rs1057118359 CA31537207 |
142 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 142 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781329666 CA1199426 |
143 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199427 rs748048733 |
143 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426300628 CA343284334 |
144 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA31537245 rs866058743 |
146 | E>K | No |
ClinGen Ensembl |
|
|
rs1394602126 CA343284360 |
148 | L>V | No |
ClinGen TOPMed |
|
|
CA343284366 rs1370086345 COSM414386 |
149 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM3802506 rs201184424 CA1199432 |
153 | A>T | Variant assessed as Somatic; 5.959e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557910567 CA343284429 |
158 | I>T | No |
ClinGen Ensembl |
|
|
CA343284449 rs1228507182 |
162 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274432950 CA343284469 |
165 | A>T | No |
ClinGen gnomAD |
|
|
CA343284479 rs1220375196 |
166 | L>R | No |
ClinGen gnomAD |
|
|
CA343284476 rs1449574566 |
166 | L>V | No |
ClinGen gnomAD |
|
|
CA343284499 rs1187014622 |
169 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1199437 rs140876363 |
170 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31537291 rs930459293 |
170 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 173 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750530595 CA1199438 |
173 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199439 rs758501785 |
174 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 175 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343284534 rs1165710252 |
176 | P>T | No |
ClinGen gnomAD |
|
|
rs751810965 CA1199441 |
177 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1314974864 CA343284542 COSM207265 |
177 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA343284540 rs751810965 |
177 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199443 rs146421127 |
178 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1364394096 CA343284558 |
180 | V>M | No |
ClinGen gnomAD |
|
|
rs1170827928 CA343284566 |
181 | L>Q | No |
ClinGen TOPMed |
|
|
CA31537335 rs999920518 |
182 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA343284576 rs1271502279 |
183 | A>T | No |
ClinGen gnomAD |
|
|
rs1373527767 CA343284579 |
183 | A>V | No |
ClinGen TOPMed |
|
|
rs140477204 CA1199445 |
187 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343284635 CA1199448 rs770440603 |
193 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1199449 rs770440603 |
193 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769016054 CA1199451 |
194 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA1199452 rs776927008 |
195 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA343284665 rs1277763574 |
196 | Y>C | No |
ClinGen TOPMed |
|
|
CA343284699 rs1472494141 |
198 | L>F | No |
ClinGen gnomAD |
|
|
CA343284695 rs1472494141 |
198 | L>I | No |
ClinGen gnomAD |
|
|
COSM1235007 rs1348283097 CA343284737 |
200 | Y>C | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1199454 rs765732320 |
201 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199455 rs773738322 |
201 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370430404 CA1199456 |
203 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1199457 rs766519016 |
203 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766519016 CA343284782 |
203 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA343284775 rs370430404 |
203 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751859631 CA1199458 |
204 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201620920 CA1199459 |
206 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745829493 CA1199460 |
207 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745829493 CA1199461 |
207 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534781177 CA343284832 |
208 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1199462 rs534781177 COSM898296 |
208 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA343284841 rs1284207963 |
209 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1024334237 CA31537456 |
210 | R>H | No |
ClinGen gnomAD |
|
|
rs1024334237 CA343284851 |
210 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1199463 rs551308491 |
210 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1199464 rs753789134 |
211 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199465 rs756778955 |
211 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277141444 CA343284925 |
215 | V>M | No |
ClinGen gnomAD |
|
|
CA343284962 rs1188336984 |
217 | Q>R | No |
ClinGen gnomAD |
|
|
CA343284995 rs1471773109 |
219 | A>T | Variant assessed as Somatic; 5.546e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1199470 rs748502258 |
220 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763478152 CA1199473 COSM898298 |
225 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771137916 COSM1499297 CA1199474 |
225 | A>V | lung Variant assessed as Somatic; 6.251e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759674962 CA343285136 |
229 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs759674962 CA1199476 |
229 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1199477 rs767914433 |
230 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343285157 rs1350670442 |
232 | L>Q | No |
ClinGen gnomAD |
|
|
CA343285166 rs1273369781 |
234 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA343285188 rs1344999091 |
238 | E>K | No |
ClinGen gnomAD |
|
|
rs760434234 COSM3782384 CA1199479 |
240 | R>C | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs760434234 CA1199480 |
240 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1199481 COSM1185627 rs753727351 |
240 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA31537588 rs867906274 |
241 | Q>E | No |
ClinGen Ensembl |
|
|
CA1199483 rs148388993 |
241 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1199484 rs147526057 |
242 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1050257497 CA31537593 |
244 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1234235108 CA343285232 |
245 | Q>R | No |
ClinGen TOPMed |
|
|
CA1199485 rs757874205 |
247 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567277167 CA1199487 |
250 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA31537638 rs536256783 |
251 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM2085748 CA1199489 rs536256783 |
251 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA343285273 rs1396411383 |
252 | R>C | No |
ClinGen gnomAD |
|
|
rs1571245645 CA343285275 |
252 | R>H | No |
ClinGen Ensembl |
|
|
rs749824972 CA1199491 |
254 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199490 rs749824972 |
254 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343285284 rs1571245653 |
254 | T>P | No |
ClinGen Ensembl |
|
|
CA343285287 rs749824972 |
254 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199493 rs759727082 |
255 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA343285296 rs1322067940 |
256 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs201883003 CA1199496 |
257 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201883003 CA1199497 |
257 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199498 rs753726829 |
258 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199500 rs367871781 |
258 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1199501 rs750337877 |
259 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199502 rs757927323 |
259 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199503 rs757927323 |
259 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751178127 CA1199504 |
260 | F>I | No |
ClinGen ExAC |
|
|
rs780694374 CA1199506 |
262 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1199507 rs749737174 |
262 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571245768 CA343285348 |
265 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 266 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 267 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 268 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31538390 rs914098370 |
269 | Q>E | No |
ClinGen TOPMed |
|
|
rs759004620 CA1199529 |
270 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573558988 CA1199530 |
270 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31538394 rs573558988 |
270 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748330035 CA1199534 |
271 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1199532 rs768600299 COSM530085 |
271 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768600299 CA1199533 |
271 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 275 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343285605 rs1410274983 |
275 | I>V | No |
ClinGen gnomAD |
|
|
CA343285617 rs1472481322 |
277 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1199537 rs762640914 |
278 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199535 rs769583287 |
278 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1199536 rs769583287 |
278 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA343285651 rs1355837267 |
281 | H>Q | No |
ClinGen TOPMed |
|
|
CA1199538 rs200070891 COSM328075 |
281 | H>R | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA343285647 rs1302390286 |
281 | H>Y | No |
ClinGen gnomAD |
|
|
CA1199539 rs774124160 |
282 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs752425713 COSM386158 CA1199542 |
287 | N>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA31538418 rs751396709 COSM530084 |
288 | P>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs751396709 CA1199543 |
288 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1318720371 CA343285712 |
291 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343285740 rs1254946827 |
295 | K>N | No |
ClinGen gnomAD |
|
|
CA1199545 rs143492133 |
295 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA31538430 rs868722329 |
296 | S>F | No |
ClinGen Ensembl |
|
|
rs61744131 COSM78758 CA1199546 |
297 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1396598119 CA343285760 |
299 | A>V | No |
ClinGen TOPMed |
|
|
CA343285778 rs1323896956 |
301 | K>N | No |
ClinGen TOPMed |
|
|
rs1178148973 CA343285779 |
302 | V>M | No |
ClinGen gnomAD |
|
|
CA343285790 rs1432013469 |
303 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 307 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1199549 rs755117088 |
309 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1199551 rs145631649 CA1199552 |
311 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343285845 rs1298602804 |
312 | E>A | No |
ClinGen gnomAD |
|
|
CA31538479 rs567154551 |
312 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343285842 rs1443189346 |
312 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1199571 rs778018773 |
314 | N>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA343285922 rs1338060468 |
315 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1571247048 CA343285929 |
316 | T>P | No |
ClinGen Ensembl |
|
|
CA343285963 rs1571247057 |
318 | N>T | No |
ClinGen Ensembl |
|
|
rs1459788332 CA343286014 |
323 | S>P | No |
ClinGen TOPMed |
|
|
RCV000522756 rs199788326 CA1199574 |
324 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA1199573 rs770787716 |
324 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs984288108 CA31538797 |
325 | A>P | No |
ClinGen TOPMed |
|
|
CA343286032 rs1382313575 |
326 | V>M | No |
ClinGen TOPMed |
|
|
CA1199576 rs772204956 |
328 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213478769 CA343286049 |
328 | A>V | No |
ClinGen gnomAD |
|
|
CA31538806 rs1001459139 |
329 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs372942988 CA1199577 |
329 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31538811 rs1001459139 |
329 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343286069 rs1571247119 |
331 | A>T | No |
ClinGen Ensembl |
|
|
CA1199579 rs750743551 COSM1639582 |
332 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA343286085 rs1264469825 |
332 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA343286094 rs1571247131 |
333 | R>G | No |
ClinGen Ensembl |
|
|
rs1219000285 CA343286102 |
333 | R>T | No |
ClinGen TOPMed |
|
|
CA343286111 rs1309272140 |
334 | R>Q | No |
ClinGen TOPMed |
|
|
rs1035577215 CA31538824 |
334 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1571247150 CA343286120 |
335 | D>G | No |
ClinGen Ensembl |
|
|
rs761306594 CA1199581 |
336 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1164024208 CA343286168 |
338 | H>R | No |
ClinGen gnomAD |
|
|
rs200278024 CA31538841 |
340 | E>K | No |
ClinGen Ensembl |
|
|
CA343286213 rs1368808665 |
341 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 345 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423051632 CA343286265 |
345 | E>K | No |
ClinGen TOPMed |
|
|
CA1199584 rs150206980 |
349 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1046298527 CA31538845 |
350 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs768050952 CA1199585 |
350 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA343286358 rs1419203348 |
351 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 352 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343286362 rs1252336477 |
352 | V>M | No |
ClinGen gnomAD |
|
|
CA1199586 rs267607167 |
353 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772560176 CA1199587 |
353 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294336660 CA343286402 |
355 | R>K | No |
ClinGen gnomAD |
|
|
CA1199588 rs754094452 |
356 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343287138 rs1437926468 |
360 | V>I | No |
ClinGen gnomAD |
|
|
rs1482164594 CA343287155 |
362 | A>V | No |
ClinGen gnomAD |
|
|
rs761103326 CA1199605 |
363 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1199606 rs201855833 |
364 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs539567902 CA1199607 |
365 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1199608 rs556377214 |
366 | A>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs765427657 CA343287187 |
367 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376906457 CA343287189 |
368 | T>A | No |
ClinGen gnomAD |
|
|
rs750626182 CA1199610 |
368 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1199612 rs779933109 |
369 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746959615 CA1199613 |
370 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs544349667 CA31540437 |
372 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1199615 rs748811717 |
372 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282548703 CA343287217 |
373 | L>M | No |
ClinGen gnomAD |
|
|
rs1195416768 CA343287226 |
374 | Q>R | No |
ClinGen gnomAD |
|
|
CA343287251 rs1267330280 |
377 | E>G | No |
ClinGen TOPMed |
|
|
rs748895930 CA1199619 |
380 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA343287293 rs1263325342 |
383 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 383 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571249174 CA343287307 |
384 | V>G | No |
ClinGen Ensembl |
|
|
rs1218143950 CA343287299 |
384 | V>M | No |
ClinGen TOPMed |
|
|
rs1173779175 CA343287325 |
386 | D>N | No |
ClinGen gnomAD |
|
|
rs202111490 CA343287348 |
388 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 388 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372592120 CA1199623 |
388 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202111490 CA1199622 |
388 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343287365 rs1557913026 |
389 | E>V | No |
ClinGen Ensembl |
|
|
CA1199625 rs761822026 |
393 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343287408 rs1396707767 |
393 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs138526867 CA31540518 |
394 | I>V | No |
ClinGen ESP |
|
|
rs1321926098 CA343287432 |
395 | F>L | No |
ClinGen gnomAD |
|
|
CA343287439 rs1370985773 |
395 | F>L | No |
ClinGen gnomAD |
|
|
rs201795992 CA31540519 |
396 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1557913057 CA343287459 |
397 | S>F | No |
ClinGen Ensembl |
|
|
rs930962646 CA31540520 |
397 | S>T | No |
ClinGen TOPMed |
|
|
CA343287467 rs1305771125 |
398 | M>T | No |
ClinGen gnomAD |
|
|
rs1226724710 CA343287487 COSM1726523 |
400 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 402 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343287532 rs7549483 |
403 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1199629 rs766698834 |
404 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1194146568 CA343287567 |
407 | R>Q | No |
ClinGen gnomAD |
|
|
CA1199632 COSM226909 rs781038004 |
407 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1413982799 CA343287577 |
409 | T>A | No |
ClinGen TOPMed |
|
|
rs1413982799 CA343287576 |
409 | T>P | No |
ClinGen TOPMed |
|
|
rs1426242023 CA343287590 |
411 | Q>E | No |
ClinGen gnomAD |
|
|
CA31540573 rs917706127 |
412 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 413 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1199635 rs777194529 |
414 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770627356 CA1199637 |
416 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1199638 rs778530202 |
419 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA343287664 rs1571249330 |
421 | L>Q | No |
ClinGen Ensembl |
|
|
CA31540612 COSM3711186 rs1038606480 |
422 | Q>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA1199643 rs760609933 |
425 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1199644 rs202143993 |
428 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1199645 rs763123792 |
429 | T>A | No |
ClinGen ExAC |
|
|
CA1199646 rs766750023 |
429 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA31540682 rs904524284 |
430 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767299238 CA1199649 |
432 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767299238 CA343287736 |
432 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752577335 CA1199650 |
433 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 439 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764057132 CA1199669 |
440 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA343287810 rs1571249982 |
441 | Y>S | No |
ClinGen Ensembl |
|
|
CA343287819 rs1571249994 |
442 | L>W | No |
ClinGen Ensembl |
|
|
rs199649451 CA343287824 |
443 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552247057 COSM1335520 CA1199671 |
443 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1199672 rs199649451 RCV000904271 |
443 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs779572040 CA1199675 |
447 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA343287844 rs1571250031 |
447 | T>P | No |
ClinGen Ensembl |
|
|
rs1173012342 CA343287863 |
449 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA343287860 rs1432974573 |
449 | Q>R | No |
ClinGen gnomAD |
|
|
CA343287888 rs1199572734 |
453 | E>K | No |
ClinGen TOPMed |
|
|
CA1199676 rs748589024 |
453 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184472534 CA1199677 |
454 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200961264 CA1199678 |
454 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs749769844 CA1199679 |
457 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA343287932 rs370979274 |
459 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs143298058 CA1199687 |
465 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1199686 rs763838210 COSM303539 |
465 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1274914055 CA343288051 |
468 | V>E | No |
ClinGen TOPMed |
|
|
CA343288078 rs1253292744 |
470 | N>S | No |
ClinGen gnomAD |
|
|
rs766107030 CA1199692 COSM898302 |
471 | G>S | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375485448 CA1199694 |
476 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 477 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372488057 CA1199695 COSM2085773 |
477 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs754406064 CA1199696 |
479 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1158625022 CA343288203 |
479 | L>R | No |
ClinGen TOPMed |
|
|
rs757893266 CA1199697 COSM3788945 |
482 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs149448007 CA1199698 |
482 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343288360 rs1557913554 |
491 | T>S | No |
ClinGen Ensembl |
|
|
rs1463422460 CA343288380 |
492 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 492 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327150246 CA343288398 |
493 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1371058629 CA343288390 |
493 | K>T | No |
ClinGen gnomAD |
|
|
CA343288461 rs1557913564 |
498 | K>R | No |
ClinGen Ensembl |
|
|
rs780343683 CA1199702 |
499 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1199701 rs780343683 |
499 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1306491775 CA343288491 |
500 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 501 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31541473 rs368563984 |
501 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs761595923 CA1199706 |
503 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs761595923 CA1199705 |
503 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA1199708 rs372637342 |
509 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1199709 rs765763277 |
512 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA1199712 rs146242745 |
515 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
1 associated diseases with Q9ULK5
[MIM: 182940]: Neural tube defects (NTD)
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269|PubMed:20558380}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269|PubMed:20558380}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9ULK5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9ULK5 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| apical protein localization | Any process in which a protein is transported to, or maintained in, apical regions of the cell. |
| cell migration involved in kidney development | The orderly movement of a cell from one site to another that will contribute to the progression of the kidney over time, from its formation to the mature organ. |
| establishment of planar polarity | Coordinated organization of groups of cells in the plane of an epithelium, such that they all orient to similar coordinates. |
| heart looping | The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| non-motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium. |
| Wnt signaling pathway, planar cell polarity pathway | The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q91ZD4 | Vangl2 | Vang-like protein 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDTESQYSGY | SYKSGHSRSS | RKHRDRRDRH | RSKSRDGGRG | DKSVTIQAPG | EPLLDNESTR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GDERDDNWGE | TTTVVTGTSE | HSISHDDLTR | IAKDMEDSVP | LDCSRHLGVA | AGATLALLSF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTPLAFLLLP | PLLWREELEP | CGTACEGLFI | SVAFKLLILL | LGSWALFFRR | PKASLPRVFV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LRALLMVLVF | LLVVSYWLFY | GVRILDARER | SYQGVVQFAV | SLVDALLFVH | YLAVVLLELR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QLQPQFTLKV | VRSTDGASRF | YNVGHLSIQR | VAVWILEKYY | HDFPVYNPAL | LNLPKSVLAK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KVSGFKVYSL | GEENSTNNST | GQSRAVIAAA | ARRRDNSHNE | YYYEEAEHER | RVRKRRARLV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VAVEEAFTHI | KRLQEEEQKN | PREVMDPREA | AQAIFASMAR | AMQKYLRTTK | QQPYHTMESI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LQHLEFCITH | DMTPKAFLER | YLAAGPTIQY | HKERWLAKQW | TLVSEEPVTN | GLKDGIVFLL |
| 490 | 500 | 510 | 520 | ||
| KRQDFSLVVS | TKKVPFFKLS | EEFVDPKSHK | FVMRLQSETS | V |