Q15436
PR
Gene name |
SEC23A |
Protein name |
Protein transport protein Sec23A |
Names |
hSec23A, SEC23-related protein A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10484 |
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
26 structures for Q15436
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2NUP | X-ray | 280 A | A | 1-765 | PDB |
| 2NUT | X-ray | 230 A | A | 1-765 | PDB |
| 2YRC | NMR | - | A | 57-108 | PDB |
| 2YRD | NMR | - | A | 57-108 | PDB |
| 3EFO | X-ray | 270 A | A | 1-765 | PDB |
| 3EG9 | X-ray | 300 A | A | 1-764 | PDB |
| 3EGD | X-ray | 270 A | A | 1-764 | PDB |
| 3EGX | X-ray | 330 A | A | 1-764 | PDB |
| 5KYN | X-ray | 255 A | A/B | 1-765 | PDB |
| 5KYU | X-ray | 351 A | A | 1-765 | PDB |
| 5KYW | X-ray | 320 A | A | 1-765 | PDB |
| 5KYX | X-ray | 352 A | A | 1-765 | PDB |
| 5KYY | X-ray | 340 A | A | 1-765 | PDB |
| 5VNE | X-ray | 270 A | A | 1-764 | PDB |
| 5VNF | X-ray | 241 A | A | 1-764 | PDB |
| 5VNG | X-ray | 260 A | A | 1-764 | PDB |
| 5VNH | X-ray | 260 A | A | 1-764 | PDB |
| 5VNI | X-ray | 279 A | A | 1-764 | PDB |
| 5VNJ | X-ray | 281 A | A | 1-764 | PDB |
| 5VNK | X-ray | 255 A | A | 1-764 | PDB |
| 5VNL | X-ray | 239 A | A | 1-764 | PDB |
| 5VNM | X-ray | 277 A | A | 1-764 | PDB |
| 5VNN | X-ray | 250 A | A | 1-764 | PDB |
| 5VNO | X-ray | 290 A | A | 1-764 | PDB |
| 8HR0 | X-ray | 334 A | A | 1-765 | PDB |
| AF-Q15436-F1 | Predicted | AlphaFoldDB |
547 variants for Q15436
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1887666757 RCV001338559 |
160 | P>S | Craniolenticulosutural dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000882342 rs144765020 CA7162126 |
167 | I>T | Craniolenticulosutural dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001324248 CA7162088 rs8018720 |
211 | L>I | Craniolenticulosutural dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001516290 rs8018720 RCV000843909 VAR_031029 CA7162087 |
211 | L>V | Craniolenticulosutural dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001335412 rs1886702078 |
375 | D>Y | Craniolenticulosutural dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000001287 CA114858 VAR_031030 rs118204000 |
382 | F>L | Craniolenticulosutural dysplasia Craniolenticulosutural dysplasia (clsd) CLSD; loss of COPII vesicle coating; results in absence of incorporation of cargo proteins into vesicles [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001310021 rs1886605183 |
432 | C>R | Craniolenticulosutural dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs144656181 RCV002540763 CA7161704 RCV000907422 |
636 | L>F | Craniolenticulosutural dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000032719 rs138568622 CA130356 |
702 | M>V | Craniolenticulosutural dysplasia Craniolenticulosutural dysplasia (clsd) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs767667896 CA7162271 |
2 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759634842 CA7162270 |
3 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7162269 rs774320399 |
3 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs769735185 CA7162268 |
4 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1334176409 CA389537987 |
8 | I>L | No |
ClinGen gnomAD |
|
|
CA389537983 rs1326667352 |
8 | I>S | No |
ClinGen gnomAD |
|
|
rs1392909032 CA389537978 |
9 | Q>* | No |
ClinGen gnomAD |
|
|
CA389537939 rs768559770 COSM3764494 |
14 | R>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7162264 rs746869456 |
14 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779725449 CA7162263 |
15 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7162262 rs771672354 |
16 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1469343433 CA389537929 |
16 | G>R | No |
ClinGen gnomAD |
|
|
rs745341783 CA7162261 |
18 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM955652 rs778291254 CA7162260 |
18 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1594488853 CA389537903 |
20 | S>T | No |
ClinGen Ensembl |
|
|
CA389537881 rs1202278470 |
23 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA389537882 rs1202278470 |
23 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1263878581 CA389537856 |
26 | S>L | No |
ClinGen gnomAD |
|
|
rs199571263 CA7162259 |
28 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7162257 rs778317222 |
28 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs778317222 CA7162258 |
28 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 30 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7162256 rs534828506 |
31 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1240927955 CA389537831 |
31 | A>T | No |
ClinGen gnomAD |
|
|
CA389537811 rs755189815 |
34 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA7162253 rs755189815 |
34 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1384863155 CA389537806 |
35 | V>I | No |
ClinGen gnomAD |
|
|
rs751593174 CA7162252 |
36 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 37 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA259572607 rs1026801129 |
37 | P>L | No |
ClinGen TOPMed |
|
|
rs1357311390 CA389537789 |
38 | V>L | No |
ClinGen TOPMed |
|
|
rs763185044 CA7162250 |
40 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766386384 CA7162251 |
40 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389537771 rs1159870879 |
41 | L>P | No |
ClinGen gnomAD |
|
|
rs1384960060 CA389537756 |
43 | T>I | No |
ClinGen gnomAD |
|
|
rs1594488751 CA389537761 |
43 | T>S | No |
ClinGen Ensembl |
|
|
rs764166561 CA7162248 |
45 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA389537730 rs1490900566 |
47 | E>D | No |
ClinGen TOPMed |
|
|
CA389537705 rs1566516584 |
51 | L>S | No |
ClinGen Ensembl |
|
|
CA259572589 rs996953799 |
52 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389537700 rs996953799 |
52 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1418469620 CA389537692 |
53 | P>R | No |
ClinGen TOPMed |
|
|
CA389537671 rs1566516557 |
56 | Y>C | No |
ClinGen Ensembl |
|
|
rs771687416 CA7162245 |
58 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA389537657 rs1354183803 |
58 | P>S | No |
ClinGen gnomAD |
|
|
CA259572578 rs112887623 |
59 | V>A | No |
ClinGen Ensembl |
|
|
rs774109418 CA259572557 |
60 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7162243 rs774109418 |
60 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA7162244 rs200958932 |
60 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389537638 rs1566516490 |
62 | S>G | No |
ClinGen Ensembl |
|
|
rs770420880 CA7162242 |
62 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7162241 rs748834685 |
64 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7162239 rs756632254 |
66 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7162238 rs34039376 COSM1369770 |
67 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs781419160 CA7162237 |
67 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781419160 CA389537604 |
67 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389537598 rs1426945558 |
68 | A>V | No |
ClinGen gnomAD |
|
|
CA389537585 rs1365877415 |
70 | L>F | No |
ClinGen TOPMed |
|
|
rs1386418523 CA389537571 |
72 | P>L | No |
ClinGen gnomAD |
|
|
rs1474483031 CA389537566 |
73 | L>F | No |
ClinGen gnomAD |
|
|
CA7162236 rs532526461 |
73 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751720483 CA7162235 |
74 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs759224683 CA7162205 |
75 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7162206 rs759224683 |
75 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7162203 rs765972767 |
76 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs959555171 CA259570903 |
76 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1566513566 CA389537434 |
77 | D>A | No |
ClinGen Ensembl |
|
|
CA7162202 rs762601262 |
77 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 78 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA259570881 rs942298286 |
79 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389537421 rs942298286 |
79 | R>G | No |
ClinGen gnomAD |
|
|
CA7162200 rs769284175 |
79 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7162201 rs769284175 |
79 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7162199 rs142099866 |
81 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1184969817 CA389537389 |
84 | A>T | No |
ClinGen gnomAD |
|
|
CA7162197 rs769255707 |
90 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1594483924 CA389537204 |
94 | F>S | No |
ClinGen Ensembl |
|
|
CA7162168 rs758162374 |
95 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389537160 rs1187612134 |
101 | I>V | No |
ClinGen TOPMed |
|
|
rs750268186 CA7162167 |
102 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1250128664 CA389537139 |
104 | L>Q | No |
ClinGen gnomAD |
|
|
CA389537091 rs1451776155 |
111 | L>S | No |
ClinGen TOPMed |
|
|
rs1193304296 CA389537082 |
112 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373191262 CA7162165 |
113 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 115 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528206827 CA259570375 |
116 | S>G | No |
ClinGen gnomAD |
|
|
CA7162163 rs763645563 |
118 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs369261537 CA7162161 |
120 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389537016 rs1594483829 |
122 | L>R | No |
ClinGen Ensembl |
|
|
CA7162147 rs753522211 |
123 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7162146 rs763694051 |
123 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA7162145 rs148560912 COSM552958 |
124 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA259569773 rs980147216 |
126 | Q>E | No |
ClinGen Ensembl |
|
|
CA7162144 rs752274259 |
126 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA389536976 rs1453527055 |
127 | M>I | No |
ClinGen gnomAD |
|
|
rs760123044 CA7162142 |
128 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7162143 rs768094128 |
128 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7162140 rs766755639 |
129 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA389536959 rs1243057919 |
130 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
rs202000789 CA7162139 |
133 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202000789 CA7162138 |
133 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389536939 rs202000789 |
133 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs950246834 CA259569750 |
135 | V>A | No |
ClinGen Ensembl |
|
|
CA389536912 rs1257150971 |
137 | T>I | No |
ClinGen gnomAD |
|
|
CA7162137 rs770054881 |
138 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7162136 rs761833085 |
138 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283677669 CA389536905 |
139 | M>V | No |
ClinGen gnomAD |
|
|
rs1242030840 CA389536895 |
140 | E>Q | No |
ClinGen gnomAD |
|
|
CA259569740 rs917394581 |
143 | D>G | No |
ClinGen Ensembl |
|
|
CA389536848 rs1314214833 |
146 | A>S | No |
ClinGen gnomAD |
|
|
CA7162134 rs771931655 |
147 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA389536839 rs1334439936 |
148 | K>E | No |
ClinGen gnomAD |
|
|
CA7162133 rs537418864 |
150 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 158 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7162132 rs778781892 |
161 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs989358928 CA259569700 |
162 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA389536741 rs749085740 |
162 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7162130 rs749085740 |
162 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755859006 CA7162128 |
163 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7162129 rs777434049 |
163 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7162127 rs752184309 |
164 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA259569668 rs761826984 |
171 | R>I | No |
ClinGen Ensembl |
|
|
CA7162122 CA259569635 rs369340802 |
172 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7162123 rs766839716 |
172 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA259569631 rs995908639 |
175 | V>F | No |
ClinGen TOPMed |
|
|
rs995908639 CA389536664 |
175 | V>I | No |
ClinGen TOPMed |
|
|
rs1406373258 CA389536654 |
176 | H>P | No |
ClinGen gnomAD |
|
|
CA259569627 rs770840374 |
179 | G>R | No |
ClinGen Ensembl |
|
|
CA389536631 rs1226498526 |
180 | C>R | No |
ClinGen gnomAD |
|
|
rs765405316 CA7162120 |
182 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 182 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541602739 CA259569602 |
186 | S>I | No |
ClinGen TOPMed |
|
|
rs541602739 CA259569604 |
186 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7162119 rs768885923 |
187 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA259569598 rs563874481 |
187 | Y>D | No |
ClinGen Ensembl |
|
|
CA7162118 rs776636342 |
188 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768715904 CA7162117 |
190 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA7162116 rs760707456 |
192 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7162115 rs774323212 |
193 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs749067197 CA7162114 |
195 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472653459 CA389536511 |
198 | K>R | No |
ClinGen TOPMed |
|
|
CA259569523 rs1005089576 |
200 | L>V | No |
ClinGen Ensembl |
|
|
CA389536492 rs1407620267 |
201 | Q>P | No |
ClinGen gnomAD |
|
|
rs943547737 CA259565740 |
202 | E>V | No |
ClinGen TOPMed |
|
|
CA259565730 rs889405240 |
208 | K>E | No |
ClinGen gnomAD |
|
|
rs746487945 CA7162089 |
209 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1277349042 CA389536419 |
210 | P>L | No |
ClinGen TOPMed |
|
|
rs1477707279 CA389536410 |
212 | T>I | No |
ClinGen TOPMed |
|
|
rs746349707 CA7162086 |
212 | T>P | No |
ClinGen ExAC TOPMed |
|
|
rs1221304580 CA389536409 |
213 | Q>K | No |
ClinGen gnomAD |
|
|
CA7162084 rs202128455 |
214 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7162081 COSM1225063 rs764260044 |
216 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA259565671 COSM1369769 rs773794829 |
216 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA7162080 rs756290411 |
217 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs922246990 CA259565669 |
217 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 219 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389536367 rs1452004136 |
220 | V>I | No |
ClinGen gnomAD |
|
|
rs1452004136 CA389536368 |
220 | V>L | No |
ClinGen gnomAD |
|
|
CA259565667 rs369778560 |
221 | Q>E | No |
ClinGen gnomAD |
|
|
CA389536342 rs1436616754 |
223 | P>L | No |
ClinGen TOPMed |
|
|
rs1344250496 CA389536338 |
224 | P>R | No |
ClinGen gnomAD |
|
|
CA389536339 rs1296585226 |
224 | P>S | No |
ClinGen TOPMed |
|
|
CA389536330 rs1178442784 |
225 | P>L | No |
ClinGen gnomAD |
|
|
rs878947292 CA259565661 |
226 | S>F | No |
ClinGen Ensembl |
|
|
CA389536328 rs1594478346 |
226 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 228 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389536291 rs1382105411 |
229 | F>L | No |
ClinGen gnomAD |
|
|
CA7162065 rs531405804 |
230 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375550799 CA7162063 |
231 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7162061 rs752855304 |
234 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752855304 CA389536263 |
234 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389536264 rs752855304 |
234 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389536261 rs1241153838 |
234 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7162060 rs147252686 |
236 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 237 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201378245 CA7162058 |
238 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389536208 rs1315008818 |
241 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1193530363 CA389536159 |
249 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1193530363 CA389536160 |
249 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 249 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253724526 CA389536137 |
252 | W>S | No |
ClinGen TOPMed |
|
|
CA7162056 rs765231047 |
255 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA389536120 rs765231047 |
255 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1455611143 CA389536097 |
258 | K>R | No |
ClinGen TOPMed |
|
|
CA259564727 rs984892355 |
261 | L>S | No |
ClinGen Ensembl |
|
|
CA389536073 rs1298554171 |
262 | R>C | No |
ClinGen gnomAD |
|
|
COSM955650 rs763784277 CA7162053 |
262 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1166379108 CA389536065 |
263 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760586919 CA7162052 |
263 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA389536030 rs1454490008 COSM1707283 |
269 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs952302427 CA259564676 |
269 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA259564675 rs367602833 |
271 | A>V | No |
ClinGen ESP |
|
|
rs759006114 CA7162049 |
272 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 274 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7162015 rs770420745 |
277 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1378009200 CA389535974 |
277 | C>Y | No |
ClinGen gnomAD |
|
|
rs1288515899 CA389535969 |
278 | T>A | No |
ClinGen gnomAD |
|
|
CA7162014 rs146187520 |
279 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389535960 rs1411273054 |
279 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389535959 rs1411273054 |
279 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs138260001 CA259554567 |
283 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138260001 CA7162012 |
283 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748424552 CA7162011 |
284 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168205811 CA389535931 |
284 | A>P | No |
ClinGen TOPMed |
|
|
rs748424552 CA389535928 |
284 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781623346 CA7162010 |
285 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7162009 rs768946218 |
285 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA259554490 rs141517330 |
286 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1376665593 CA389535916 |
287 | M>V | No |
ClinGen TOPMed |
|
|
CA7162008 rs747225104 |
288 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758523524 CA7162007 |
290 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs758523524 CA7162006 |
290 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA389535891 rs1315632771 |
290 | I>V | No |
ClinGen TOPMed |
|
|
CA389535878 rs1464882423 |
292 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs892761245 CA259554458 |
293 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs750535984 CA7162005 |
295 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777529763 CA7162004 |
296 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs550270165 CA7162003 |
296 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767286131 CA7162001 |
301 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1594467966 CA389535816 |
302 | V>G | No |
ClinGen Ensembl |
|
|
CA389535821 rs1461135484 |
302 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 305 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389535783 rs1245439317 |
307 | K>T | No |
ClinGen TOPMed |
|
|
rs1447768161 CA389535770 |
309 | P>H | No |
ClinGen TOPMed |
|
|
CA259554415 rs941659762 |
309 | P>S | No |
ClinGen Ensembl |
|
|
rs1484342490 CA389535748 |
312 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7161998 rs766066882 |
313 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1055569163 CA259554396 |
314 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762403653 CA7161997 |
315 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA389535732 rs1566501843 |
315 | D>N | No |
ClinGen Ensembl |
|
|
CA389535721 rs1241708321 |
316 | I>T | No |
ClinGen gnomAD |
|
|
CA389535724 rs1306910409 |
316 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1408139788 CA389535718 |
317 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 319 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA259554390 rs868177804 |
319 | D>Y | No |
ClinGen Ensembl |
|
|
CA259554375 rs929802936 |
320 | N>S | No |
ClinGen TOPMed |
|
|
CA7161994 rs762395336 |
322 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs777066571 CA389535669 |
323 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1362033766 CA389535667 |
324 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 326 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389535635 rs1408986091 |
328 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA259553100 rs781634007 |
331 | F>L | No |
ClinGen gnomAD |
|
|
rs148248798 CA7161980 |
332 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7161979 rs749846887 |
332 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7161978 rs764794811 |
333 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs764794811 CA389535589 |
333 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1195561215 CA389535576 |
335 | A>G | No |
ClinGen gnomAD |
|
|
rs777167724 CA7161976 |
337 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM955649 CA389535564 rs777167724 |
337 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA389535558 rs1594466673 |
338 | A>V | No |
ClinGen Ensembl |
|
|
CA389535547 rs1288978832 |
340 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA389535543 rs1207568961 |
341 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389535538 rs1357792119 |
342 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389535528 rs1273460823 |
343 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389535513 rs1217685233 |
345 | I>S | No |
ClinGen gnomAD |
|
|
rs764749014 CA7161975 |
347 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA389535491 rs1280564476 |
348 | Y>* | No |
ClinGen gnomAD |
|
|
rs761078459 CA7161974 |
348 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400918714 CA389535487 |
349 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1400918714 CA389535485 |
349 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389535479 rs1322090864 |
350 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA259553018 rs868613144 |
354 | Q>* | No |
ClinGen Ensembl |
|
|
rs1170026307 CA389535435 |
357 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1195584785 CA389535401 |
361 | K>N | No |
ClinGen gnomAD |
|
|
CA259552993 rs961308319 |
362 | C>W | No |
ClinGen TOPMed |
|
|
rs1379245422 CA389535389 |
363 | C>S | No |
ClinGen TOPMed |
|
|
CA7161968 rs749375793 |
364 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7161966 rs754941711 |
365 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs939985253 CA259552969 |
366 | L>F | No |
ClinGen Ensembl |
|
|
CA389535358 rs1360485296 |
368 | G>A | No |
ClinGen TOPMed |
|
|
CA7161939 rs755748033 |
370 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777404819 CA7161940 |
370 | Y>N | No |
ClinGen ExAC TOPMed |
|
|
CA259543521 rs978735158 |
371 | M>T | No |
ClinGen Ensembl |
|
|
CA389535290 rs1332026479 |
376 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA259543502 rs146513027 |
378 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7161938 rs146513027 |
378 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7161937 rs199838604 |
378 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7161936 rs199838604 |
378 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA259543470 rs953930767 |
379 | T>N | No |
ClinGen Ensembl |
|
|
rs751898702 CA7161935 |
380 | S>T | No |
ClinGen ExAC gnomAD |
|
| rs1381673861 | 381 | L>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389535243 rs1177257994 |
384 | Q>E | No |
ClinGen gnomAD |
|
|
rs1472298590 CA389535218 |
387 | Q>R | No |
ClinGen gnomAD |
|
|
rs773481482 CA7161932 |
388 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs773481482 CA7161933 |
388 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA259543429 rs972372989 |
391 | T>I | No |
ClinGen TOPMed |
|
|
rs761925126 CA7161930 |
392 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA389535178 rs1180298592 |
393 | D>G | No |
ClinGen TOPMed |
|
|
rs771928103 CA7161928 |
394 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7161929 rs775480198 |
394 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA259543392 rs765789373 |
396 | G>A | No |
ClinGen Ensembl |
|
|
rs866845715 CA259543384 |
400 | M>I | No |
ClinGen Ensembl |
|
|
CA7161924 rs770814406 |
400 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7161923 rs748940241 |
401 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1594459926 CA389535100 |
404 | G>V | No |
ClinGen Ensembl |
|
|
rs755662503 CA7161921 |
405 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389535097 rs1297326337 |
405 | T>S | No |
ClinGen gnomAD |
|
|
rs1404186561 CA389535092 |
406 | L>P | No |
ClinGen gnomAD |
|
|
rs781694918 CA7161919 |
406 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA389535081 rs1354768674 |
408 | I>V | No |
ClinGen TOPMed |
|
|
rs1411215820 CA389535075 |
409 | K>Q | No |
ClinGen gnomAD |
|
|
CA259542036 rs944837387 |
412 | R>G | No |
ClinGen TOPMed |
|
|
CA7161890 rs766440327 |
413 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1206438338 CA389534988 |
420 | I>T | No |
ClinGen Ensembl |
|
|
rs372931902 CA7161889 |
420 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7161888 rs145437891 |
421 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389534980 rs1397356809 |
421 | G>V | No |
ClinGen gnomAD |
|
|
CA259542025 rs986552740 |
422 | P>L | No |
ClinGen TOPMed |
|
|
rs1397804851 CA389534977 |
422 | P>S | No |
ClinGen TOPMed |
|
|
CA389534969 rs1314373047 |
423 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA389534966 rs1457336636 |
424 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs761359915 CA7161886 |
427 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 430 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389534918 rs1335049853 |
431 | P>H | No |
ClinGen TOPMed |
|
|
rs1335049853 CA389534916 |
431 | P>L | No |
ClinGen TOPMed |
|
|
rs776413541 CA7161885 |
432 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1302639547 CA389534855 |
438 | I>L | No |
ClinGen gnomAD |
|
|
rs1464805976 CA389534851 |
438 | I>M | No |
ClinGen gnomAD |
|
|
CA389534840 rs1377821108 |
440 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA389534835 rs1174773422 |
441 | G>A | No |
ClinGen gnomAD |
|
|
CA389534824 rs1594456069 |
443 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 445 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378600769 CA389534801 |
446 | W>* | No |
ClinGen gnomAD |
|
|
CA7161874 rs778101908 |
449 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA7161873 rs778101908 |
449 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs149695859 CA389534771 |
450 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149695859 CA7161872 |
450 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766350416 CA7161870 |
451 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA389534750 rs1282155695 |
454 | T>P | No |
ClinGen gnomAD |
|
|
CA389534746 rs1211566708 |
454 | T>S | No |
ClinGen gnomAD |
|
|
rs750444603 CA7161867 |
455 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA389534728 rs1394684797 |
457 | L>F | No |
ClinGen gnomAD |
|
|
rs1311505675 CA389534732 |
457 | L>S | No |
ClinGen gnomAD |
|
|
CA7161865 rs765120987 |
457 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA259540842 rs933417558 |
458 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs933417558 CA389534723 |
458 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA389534712 rs1419685119 |
460 | Y>C | No |
ClinGen gnomAD |
|
|
CA389534703 rs1359185958 |
461 | F>S | No |
ClinGen gnomAD |
|
|
CA389534695 rs1453753676 |
462 | E>G | No |
ClinGen gnomAD |
|
|
CA389534687 rs1160380939 |
463 | V>A | No |
ClinGen gnomAD |
|
|
CA389534684 rs1454326836 |
464 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 465 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 470 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389534625 rs375987119 |
470 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375987119 CA7161848 |
470 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs573355874 CA7161845 |
472 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1266127648 CA389534601 |
474 | G>E | No |
ClinGen gnomAD |
|
|
rs1211272845 CA389534597 |
475 | G>R | No |
ClinGen gnomAD |
|
|
CA389534593 rs1230067529 |
475 | G>V | No |
ClinGen TOPMed |
|
|
rs760390779 CA7161844 |
476 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144799352 CA7161843 |
476 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144799352 CA7161842 |
476 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 477 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 477 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7161841 rs759091967 |
478 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7161840 rs774786642 |
479 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389534574 rs1439341873 |
479 | I>T | No |
ClinGen TOPMed |
|
|
rs1228861892 CA389534556 |
482 | V>M | No |
ClinGen gnomAD |
|
|
CA7161839 rs771499199 |
483 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 484 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187158371 CA7161838 |
485 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200540771 CA259539734 |
486 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770112771 CA389534520 |
487 | H>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1515498 rs770112771 CA7161836 |
487 | H>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7161834 rs781607651 |
489 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs755087647 CA7161833 |
491 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7161832 rs201813965 |
493 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7161831 rs572679988 |
493 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 494 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757227446 CA7161830 |
495 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs753521673 CA389534471 |
495 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7161829 rs753521673 |
495 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763939038 CA7161828 |
496 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs752322650 CA7161826 |
498 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs767175510 CA7161825 |
499 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7161824 rs759003941 |
500 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1196675541 CA389534434 |
502 | N>D | No |
ClinGen gnomAD |
|
|
rs765907917 CA7161805 |
505 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141053928 CA7161804 |
506 | A>V | No |
ClinGen ESP ExAC |
|
|
rs1436573002 CA389534385 |
507 | Q>* | No |
ClinGen gnomAD |
|
|
CA7161802 rs546605859 CA7161803 |
507 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389534374 rs1157745933 |
508 | T>I | No |
ClinGen gnomAD |
|
|
rs1398399095 CA389534371 |
509 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA389534370 rs1409749665 |
509 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 516 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768944205 CA7161799 |
519 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7161798 rs147329319 |
521 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389534280 rs1263028508 |
522 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 525 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389534254 rs1318773491 |
526 | M>L | No |
ClinGen gnomAD |
|
|
rs775644647 CA7161797 |
526 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs754673747 CA259533355 |
528 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA389534241 COSM1243589 rs1228015235 |
528 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1416328955 CA389534236 |
529 | L>P | No |
ClinGen gnomAD |
|
|
CA389534216 rs1287152162 |
532 | Y>C | No |
ClinGen TOPMed |
|
|
CA389534186 rs1350768508 |
536 | T>I | No |
ClinGen TOPMed |
|
|
CA389534185 rs1229826646 |
537 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 538 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 541 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371938921 CA259533343 |
542 | V>M | No |
ClinGen ESP gnomAD |
|
|
rs772165680 CA7161796 |
543 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA389534137 rs1159176333 |
544 | R>K | No |
ClinGen gnomAD |
|
|
rs1334617003 CA389534089 |
551 | I>V | No |
ClinGen TOPMed |
|
|
rs368022154 CA7161792 |
552 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA389534066 rs1167570909 |
552 | R>Q | No |
ClinGen gnomAD |
|
|
CA389533238 rs1192593463 |
556 | K>I | No |
ClinGen TOPMed |
|
|
rs1193106121 CA389533209 |
560 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1452611465 CA389533201 |
561 | H>R | No |
ClinGen gnomAD |
|
|
CA389533193 rs1214606225 |
562 | K>R | No |
ClinGen gnomAD |
|
|
rs1384884533 CA389533172 |
565 | P>S | No |
ClinGen TOPMed |
|
|
CA7161780 rs148087647 |
566 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA259527157 rs903635005 |
566 | S>N | No |
ClinGen Ensembl |
|
|
CA7161779 rs761166001 |
566 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1050596575 CA259527146 |
567 | S>F | No |
ClinGen TOPMed |
|
|
rs1050596575 CA389533159 |
567 | S>Y | No |
ClinGen TOPMed |
|
|
rs1296149374 CA389533146 |
569 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA389533132 rs1232970294 |
571 | S>A | No |
ClinGen gnomAD |
|
|
rs866909763 CA259527110 |
571 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7161777 rs377098524 |
572 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA259527098 rs901658180 COSM1740077 |
573 | T>A | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA389533107 rs1594441695 |
575 | S>A | No |
ClinGen Ensembl |
|
|
rs1370997367 CA389533101 |
576 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 580 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs558653332 CA7161749 |
581 | M>I | No |
ClinGen 1000Genomes ExAC |
|
|
CA259524045 rs918701287 |
581 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 584 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 586 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389532275 rs1325196444 |
587 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1320379710 CA389532191 |
591 | Q>K | No |
ClinGen gnomAD |
|
|
rs1382794714 CA389532166 |
592 | V>G | No |
ClinGen gnomAD |
|
|
CA7161748 rs775163398 |
595 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340169141 CA389532056 |
597 | P>L | No |
ClinGen TOPMed |
|
|
CA389531989 rs1324178842 |
600 | S>N | No |
ClinGen gnomAD |
|
|
rs771963211 CA7161747 |
602 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1396481798 CA389531895 |
604 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389531891 rs1163617292 COSM78460 |
604 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA259524031 rs941426640 |
605 | H>Y | No |
ClinGen TOPMed |
|
|
rs1371210103 CA389531795 |
608 | M>L | No |
ClinGen gnomAD |
|
|
rs1010960359 CA389531767 |
609 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7161745 rs748835653 |
609 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7161743 rs748835653 |
609 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7161744 rs748835653 |
609 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010960359 CA259523993 |
609 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389531689 rs1251800035 |
613 | T>A | No |
ClinGen gnomAD |
|
|
CA389531686 rs1251800035 |
613 | T>S | No |
ClinGen gnomAD |
|
|
rs1182807696 CA389531600 |
617 | I>N | No |
ClinGen TOPMed |
|
|
rs751117084 CA7161742 |
618 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7161741 rs370086460 |
619 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755409537 CA7161738 |
622 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7161739 rs767767591 |
622 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA259523956 rs17853672 |
623 | L>M | No |
ClinGen Ensembl |
|
|
rs1229744371 CA389531444 |
624 | Y>C | No |
ClinGen gnomAD |
|
|
rs990964655 CA259523954 |
625 | A>V | No |
ClinGen Ensembl |
|
|
CA389531335 rs1371912923 |
628 | F>L | No |
ClinGen gnomAD |
|
|
CA7161735 rs762979945 |
629 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA259523935 rs759783800 |
631 | P>Q | No |
ClinGen TOPMed |
|
|
rs773286554 CA7161734 |
632 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1030509427 CA259521720 |
634 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 637 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 639 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747715736 CA7161703 |
640 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232205743 CA389529604 |
643 | L>V | No |
ClinGen TOPMed |
|
|
rs575894530 CA7161702 |
646 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA259521692 COSM955646 rs1010225972 |
646 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1566481424 CA389529558 |
647 | I>V | No |
ClinGen Ensembl |
|
|
CA389529521 rs769211083 |
650 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs769211083 CA7161701 |
650 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7161700 rs747317789 |
655 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1475062216 COSM469951 CA389529381 |
659 | Y>* | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1322277810 CA389529202 |
663 | T>I | No |
ClinGen gnomAD |
|
|
rs1318208043 CA389529187 |
666 | Q>E | No |
ClinGen gnomAD |
|
|
CA7161680 rs376072059 |
666 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 667 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389529169 rs1297679084 |
668 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1366800959 CA389529171 |
668 | R>W | No |
ClinGen gnomAD |
|
|
rs1439795925 CA389529162 |
669 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA389529157 rs1594434558 |
670 | S>A | No |
ClinGen Ensembl |
|
|
rs772407079 CA7161678 |
675 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7161679 rs780581199 |
675 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 677 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746269243 CA7161677 |
678 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7161676 rs200050093 |
680 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757511306 CA7161675 |
682 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749527149 CA7161674 |
682 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7161673 rs770746650 |
684 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA259519555 rs948589137 |
685 | L>M | No |
ClinGen TOPMed |
|
|
CA389529036 rs1305896923 |
688 | P>A | No |
ClinGen TOPMed |
|
|
rs1269673233 CA389529021 |
690 | D>G | No |
ClinGen gnomAD |
|
|
CA7161670 rs766440390 |
693 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA389529000 rs1230685660 |
693 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 694 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057255187 CA259519519 |
695 | I>S | No |
ClinGen TOPMed |
|
|
rs1566480088 CA389528988 |
695 | I>V | No |
ClinGen Ensembl |
|
|
CA7161669 rs758226591 |
696 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs764739231 CA7161668 |
697 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1344143945 CA389528960 |
699 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 700 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7161665 rs763566760 |
705 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs776215212 CA7161666 |
705 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 711 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7161663 rs775931340 |
711 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389528641 rs1351692320 |
716 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389528505 rs1302503002 |
726 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7161646 rs374795293 |
728 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763762465 CA7161645 |
730 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1227535260 CA389528442 |
731 | M>T | No |
ClinGen TOPMed |
|
|
rs1405254112 CA389528409 |
733 | A>V | No |
ClinGen Ensembl |
|
|
rs1473431204 CA389528394 |
734 | W>C | No |
ClinGen gnomAD |
|
|
CA259518372 rs946878705 |
734 | W>R | No |
ClinGen TOPMed |
|
|
rs760142524 CA7161644 |
735 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 736 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 736 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 737 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389527192 rs1235500100 |
738 | S>P | No |
ClinGen TOPMed |
|
|
CA389527181 rs1216487088 |
740 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1299838110 CA389527171 |
741 | P>R | No |
ClinGen gnomAD |
|
|
CA7161616 rs766802086 |
742 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA7161615 rs763337172 |
743 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 747 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773735142 CA7161614 |
747 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 748 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 750 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7161613 rs770330709 |
753 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs762094447 CA7161612 |
754 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA389527061 rs1163796255 |
757 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 758 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865977979 CA259536544 |
761 | V>A | No |
ClinGen Ensembl |
|
|
rs768765476 CA7161610 |
761 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7161611 rs768765476 |
761 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA389527032 rs1169850210 |
762 | S>A | No |
ClinGen gnomAD |
|
|
CA7161609 rs747069517 |
763 | S>I | No |
ClinGen ExAC TOPMed |
|
|
CA389527023 rs747069517 |
763 | S>T | No |
ClinGen ExAC TOPMed |
|
|
rs1387789302 CA389527019 |
764 | A>T | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q15436
[MIM: 607812]: Craniolenticulosutural dysplasia (CLSD)
Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. {ECO:0000269|PubMed:16980979}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. {ECO:0000269|PubMed:16980979}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q15436
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, Sec23/Sec24-type | 58 - 98 | IPR006895 |
| domain | Sec23/Sec24, trunk domain | 126 - 390 | IPR006896 |
| domain | Sec23/Sec24, helical domain | 518 - 616 | IPR006900 |
| domain | Gelsolin-like domain | 632 - 718 | IPR007123 |
| domain | Sec23/Sec24 beta-sandwich | 401 - 504 | IPR012990 |
| domain | Sec23, C-terminal | 610 - 730 | IPR037550 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| COPII vesicle coat | One of two multimeric complexes that forms a membrane vesicle coat. COPII is best characterized in S. cerevisiae, where the subunits are called Sar1p, Sec13p, Sec31p, Sec23p, and Sec24p. Vesicles with COPII coats are found associated with endoplasmic reticulum (ER) membranes at steady state. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum exit site | An endoplasmic reticulum part at which COPII-coated vesicles are produced. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| ER to Golgi transport vesicle membrane | The lipid bilayer surrounding a vesicle transporting substances from the endoplasmic reticulum to the Golgi. |
| extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| zinc ion binding | Binding to a zinc ion (Zn). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| COPII-coated vesicle cargo loading | The formation of a macromolecular complex between the COPII coat proteins and proteins and/or lipoproteins that are going to be transported by the COPII vesicle to the Golgi. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZN2 | SEC23B | Protein transport protein Sec23B | Bos taurus (Bovine) | PR |
| Q5ZK03 | SEC23A | Protein transport protein Sec23A | Gallus gallus (Chicken) | PR |
| Q15437 | SEC23B | Protein transport protein Sec23B | Homo sapiens (Human) | PR |
| Q9D662 | Sec23b | Protein transport protein Sec23B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTTYLEFIQQ | NEERDGVRFS | WNVWPSSRLE | ATRMVVPVAA | LFTPLKERPD | LPPIQYEPVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CSRTTCRAVL | NPLCQVDYRA | KLWACNFCYQ | RNQFPPSYAG | ISELNQPAEL | LPQFSSIEYV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLRGPQMPLI | FLYVVDTCME | DEDLQALKES | MQMSLSLLPP | TALVGLITFG | RMVQVHELGC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EGISKSYVFR | GTKDLSAKQL | QEMLGLSKVP | LTQATRGPQV | QQPPPSNRFL | QPVQKIDMNL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TDLLGELQRD | PWPVPQGKRP | LRSSGVALSI | AVGLLECTFP | NTGARIMMFI | GGPATQGPGM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VVGDELKTPI | RSWHDIDKDN | AKYVKKGTKH | FEALANRAAT | TGHVIDIYAC | ALDQTGLLEM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KCCPNLTGGY | MVMGDSFNTS | LFKQTFQRVF | TKDMHGQFKM | GFGGTLEIKT | SREIKISGAI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GPCVSLNSKG | PCVSENEIGT | GGTCQWKICG | LSPTTTLAIY | FEVVNQHNAP | IPQGGRGAIQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FVTQYQHSSG | QRRIRVTTIA | RNWADAQTQI | QNIAASFDQE | AAAILMARLA | IYRAETEEGP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DVLRWLDRQL | IRLCQKFGEY | HKDDPSSFRF | SETFSLYPQF | MFHLRRSSFL | QVFNNSPDES |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SYYRHHFMRQ | DLTQSLIMIQ | PILYAYSFSG | PPEPVLLDSS | SILADRILLM | DTFFQILIYH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GETIAQWRKS | GYQDMPEYEN | FRHLLQAPVD | DAQEILHSRF | PMPRYIDTEH | GGSQARFLLS |
| 730 | 740 | 750 | 760 | ||
| KVNPSQTHNN | MYAWGQESGA | PILTDDVSLQ | VFMDHLKKLA | VSSAA |