Q14194
Gene name |
CRMP1 (DPYSL1, ULIP3) |
Protein name |
Dihydropyrimidinase-related protein 1 |
Names |
DRP-1, Collapsin response mediator protein 1, CRMP-1, Inactive dihydropyrimidinase, Unc-33-like phosphoprotein 3, ULIP-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1400 |
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
2 structures for Q14194
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4B3Z | X-ray | 305 A | A/B/C/D | 1-572 | PDB |
| AF-Q14194-F1 | Predicted | AlphaFoldDB |
423 variants for Q14194
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA356159163 rs1308607005 |
2 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA91760355 rs966152617 |
2 | S>W | No |
ClinGen gnomAD |
|
|
rs986093942 CA91760345 |
4 | Q>* | No |
ClinGen Ensembl |
|
|
CA356159145 rs1275676580 |
4 | Q>H | No |
ClinGen gnomAD |
|
|
CA356159146 rs1290791436 |
4 | Q>R | No |
ClinGen gnomAD |
|
|
CA356159118 rs1381451068 |
8 | S>N | No |
ClinGen gnomAD |
|
|
rs866896444 CA91760317 |
10 | P>Q | No |
ClinGen Ensembl |
|
|
rs1182965444 CA356159086 |
13 | T>S | No |
ClinGen TOPMed |
|
|
CA2837429 rs769736612 |
16 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs934941436 CA91740431 |
16 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1577820383 CA356157229 |
20 | K>R | No |
ClinGen Ensembl |
|
|
CA2837427 rs770457969 |
23 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs745621595 CA2837428 |
23 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356157143 rs545458583 |
27 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2837425 rs545458583 |
27 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777215799 CA356157098 |
29 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA356157092 rs1272473241 |
30 | S>Y | No |
ClinGen gnomAD |
|
|
CA2837423 rs771581090 |
31 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1370732535 CA356157065 |
33 | A>G | No |
ClinGen gnomAD |
|
|
rs377482181 CA2837420 |
35 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377482181 CA356157050 |
35 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356157030 rs1440426495 |
36 | Y>C | No |
ClinGen TOPMed |
|
|
CA91740389 rs985902300 |
37 | L>V | No |
ClinGen TOPMed |
|
|
rs1328239238 CA356157000 |
39 | D>N | No |
ClinGen gnomAD |
|
|
rs1410639561 CA356156982 |
40 | G>R | No |
ClinGen gnomAD |
|
|
rs750718997 CA2837419 |
41 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA2837418 rs781402227 |
42 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356155326 rs1186366027 |
44 | Q>E | No |
ClinGen gnomAD |
|
|
rs899968776 CA91734874 |
46 | G>A | No |
ClinGen Ensembl |
|
|
rs1366057255 CA356155240 |
47 | E>D | No |
ClinGen gnomAD |
|
|
rs1232728809 CA356155224 |
48 | N>K | No |
ClinGen TOPMed |
|
|
CA356155223 rs1258872031 |
49 | L>I | No |
ClinGen gnomAD |
|
|
rs1303845719 CA356155211 |
50 | I>V | No |
ClinGen gnomAD |
|
|
CA91734852 rs1038411295 |
51 | V>A | No |
ClinGen gnomAD |
|
|
CA2837397 rs758415603 |
51 | V>I | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356155199 rs758415603 |
51 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA356155169 rs1553906823 |
53 | G>S | No |
ClinGen Ensembl |
|
|
rs1419888417 CA356155087 |
58 | I>F | No |
ClinGen gnomAD |
|
|
rs1196992053 CA356155077 |
58 | I>T | No |
ClinGen TOPMed |
|
|
rs752770907 CA356155006 |
61 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356155012 rs1272674453 |
61 | N>S | No |
ClinGen TOPMed |
|
|
rs1352884103 CA356155001 |
62 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 63 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2837394 rs373508403 |
63 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs147608754 CA2837395 |
63 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 68 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314742024 CA356154860 |
70 | I>T | No |
ClinGen gnomAD |
|
|
rs766137456 CA2837392 |
74 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1402107149 CA356154514 |
79 | P>L | No |
ClinGen gnomAD |
|
|
rs141399602 CA2837389 |
80 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 81 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761326053 CA2837388 |
81 | Q>L | No |
ClinGen ExAC |
|
|
CA91734676 rs917433210 |
82 | G>E | No |
ClinGen gnomAD |
|
|
CA91734688 rs62297733 |
82 | G>R | No |
ClinGen Ensembl |
|
|
rs1035732948 CA91734667 CA356154345 |
83 | M>I | No |
ClinGen TOPMed |
|
|
rs768146939 CA2837386 |
84 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241930427 CA356154330 |
85 | A>S | No |
ClinGen gnomAD |
|
|
COSM297424 CA2837385 rs201508359 |
85 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA356154288 rs1271550334 |
86 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2837382 rs747334581 |
89 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA356154206 rs747334581 |
89 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs777875354 CA2837381 |
90 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748376145 CA2837379 |
91 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2837380 rs549636760 |
91 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1033462450 CA91734637 |
93 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2837378 rs779175259 COSM1738975 |
95 | A>V | Variant assessed as Somatic; 0.0 impact. NS prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755864249 CA2837374 |
97 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2837375 rs766297812 |
97 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 99 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1430387 CA356153857 rs1560508405 |
102 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA356165169 rs1290527173 |
106 | D>G | No |
ClinGen Ensembl |
|
|
CA2837355 rs138323311 |
108 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356165140 rs1480286004 |
109 | V>A | No |
ClinGen gnomAD |
|
|
CA356165134 rs1279374761 |
110 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430391794 CA356165112 |
112 | P>S | No |
ClinGen gnomAD |
|
|
CA356165091 COSM462148 rs1390300757 |
114 | S>C | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs757022185 CA2837353 |
115 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2837352 rs751232611 |
115 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2837351 rs763672490 |
116 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2837350 rs762384169 |
118 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1157208110 CA356165037 |
120 | F>L | No |
ClinGen gnomAD |
|
|
CA2837348 rs144668952 |
120 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773574222 CA2837346 |
121 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773574222 CA91783637 |
121 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2837345 rs371476843 |
122 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762231166 CA2837344 |
123 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 123 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356164960 rs139688791 |
124 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376766526 COSM1202305 CA2837341 |
125 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376766526 CA2837342 |
125 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356164932 rs1227366630 |
126 | A>V | No |
ClinGen TOPMed |
|
|
CA356164918 rs1486563126 |
127 | A>G | No |
ClinGen gnomAD |
|
|
rs1260825471 CA356164884 |
129 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1260825471 CA356164886 |
129 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1237886052 CA356164881 |
130 | K>E | No |
ClinGen gnomAD |
|
|
CA356164876 rs1202824412 |
130 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316946495 CA356164840 |
132 | C>S | No |
ClinGen gnomAD |
|
|
rs548835481 CA2837338 |
139 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 140 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356164712 rs1312866868 |
141 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs189022086 CA2837337 |
142 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2837336 rs757073146 |
144 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 145 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1430385 rs777531665 CA2837334 |
146 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA91783545 rs386671024 |
147 | G>R | No |
ClinGen Ensembl |
|
|
RCV000962067 rs114376030 CA2837333 |
147 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA356164614 COSM179314 rs1417061818 |
148 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs754327324 COSM1249130 CA91783499 |
149 | R>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM4135414 rs754327324 CA2837330 |
149 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs373503083 CA2837331 |
149 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168953718 CA356164584 |
150 | E>D | No |
ClinGen TOPMed |
|
|
CA91783498 rs868118770 COSM1430384 |
150 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA2837329 rs751001437 |
151 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs762280042 CA2837327 |
154 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1470586615 CA356164543 COSM1540666 |
154 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1333537242 CA356164526 |
156 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356164482 rs1293140351 |
159 | K>N | No |
ClinGen gnomAD |
|
| rs577913448 | 160 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356164189 rs1167880099 |
160 | G>D | No |
ClinGen TOPMed |
|
|
rs200972738 CA2837301 |
161 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2837299 rs746998647 |
162 | N>S | No |
ClinGen ExAC |
|
|
CA356164157 rs1194954213 |
164 | F>V | No |
ClinGen gnomAD |
|
|
CA2837298 rs773088512 |
168 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1404891531 CA356164104 |
169 | A>T | No |
ClinGen TOPMed |
|
|
rs1338697490 CA356164098 |
169 | A>V | No |
ClinGen gnomAD |
|
|
rs771936597 CA356164092 |
170 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771936597 CA2837297 |
170 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299474362 CA356164084 |
171 | K>E | No |
ClinGen TOPMed |
|
|
CA356164070 rs1277243766 |
172 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA356164076 rs1340451216 |
172 | D>N | No |
ClinGen gnomAD |
|
|
rs754642764 CA2837294 |
174 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779747285 CA2837292 |
175 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs755662444 CA2837291 |
176 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764467563 CA2837289 COSM734027 |
178 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758792685 CA2837288 |
179 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA356163984 rs1171487605 |
180 | Q>R | No |
ClinGen gnomAD |
|
|
rs755287180 CA2837260 |
182 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs556396914 CA2837258 |
183 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2837257 rs200982795 |
184 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200982795 CA356163811 |
184 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750528856 CA2837256 |
185 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2837254 rs142860765 |
187 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356163791 rs771606012 |
187 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1382912703 CA356163778 |
189 | K>N | No |
ClinGen gnomAD |
|
|
rs762796750 CA2837251 |
190 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2837249 rs769512358 |
194 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs745531246 CA2837248 |
197 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2837246 rs770452762 |
199 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs780608958 CA2837247 |
199 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 203 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 204 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2837244 rs148566004 |
207 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189462087 CA356163665 |
207 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1354523900 CA356163367 |
208 | E>K | No |
ClinGen gnomAD |
|
|
CA91768871 rs1040712735 |
209 | Q>R | No |
ClinGen TOPMed |
|
|
CA2837219 rs757287386 |
210 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA356163342 rs751597431 |
211 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751597431 CA2837218 |
211 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943976253 CA91768847 |
213 | L>V | No |
ClinGen Ensembl |
|
|
COSM587831 CA2837217 rs146352571 |
215 | M>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA356163317 rs1173251909 |
215 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356163312 rs1480329725 |
216 | G>S | No |
ClinGen TOPMed |
|
|
COSM1202302 rs142255876 CA2837215 |
218 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1183227411 CA356163284 |
221 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1279085177 CA356163232 |
227 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356163212 rs1313390721 |
228 | P>L | No |
ClinGen gnomAD |
|
|
rs766002544 CA2837211 |
228 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1577773980 CA356163188 |
230 | E>G | No |
ClinGen Ensembl |
|
|
rs866170289 CA356163059 |
235 | A>S | No |
ClinGen gnomAD |
|
|
CA91766704 rs866170289 |
235 | A>T | No |
ClinGen gnomAD |
|
|
COSM1202301 CA2837177 rs755012630 |
238 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs753690772 CA2837176 |
239 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356163028 rs1323883316 |
240 | I>T | No |
ClinGen gnomAD |
|
|
CA2837175 rs138991048 |
241 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2837173 rs750102720 |
243 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs200099288 CA2837170 |
245 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2837171 rs149255467 |
245 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2837169 rs763505249 |
246 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA91766565 rs895552524 |
247 | N>I | No |
ClinGen Ensembl |
|
|
CA2837168 rs760128691 |
252 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA2837167 rs776956058 |
253 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230574363 CA356162892 |
253 | T>S | No |
ClinGen gnomAD |
|
|
CA91766536 rs377118826 |
257 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372823825 CA2837161 COSM3767925 |
262 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs749266226 CA2837159 COSM1158297 |
263 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356162745 rs1450790289 COSM1056405 |
265 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA2837157 rs755904586 |
266 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs150121214 CA2837155 |
270 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356162526 rs1442052171 |
274 | V>D | No |
ClinGen gnomAD |
|
|
CA91764430 rs930409854 |
278 | P>S | No |
ClinGen gnomAD |
|
|
rs930409854 CA356162499 |
278 | P>T | No |
ClinGen gnomAD |
|
|
rs983344104 CA91764428 |
279 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs202144395 CA2837127 |
279 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs983344104 COSM3826040 CA356162494 |
279 | I>V | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA356162488 rs1228951393 |
280 | A>S | No |
ClinGen gnomAD |
|
|
rs756727397 CA2837126 |
280 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA356162480 rs1447103252 |
281 | A>V | No |
ClinGen gnomAD |
|
|
CA2837124 rs768018968 |
285 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs376257908 COSM1430381 CA2837122 |
286 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA356162447 rs1387322876 |
287 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 288 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2837121 rs764161441 |
288 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1414916505 CA356162437 |
289 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2837119 rs775497450 |
289 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1238198804 CA356162421 |
291 | W>R | No |
ClinGen gnomAD |
|
|
rs939261116 CA91764353 |
292 | S>N | No |
ClinGen gnomAD |
|
|
rs939261116 CA91764352 |
292 | S>T | No |
ClinGen gnomAD |
|
|
rs745855014 CA2837117 |
296 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1396151256 CA356162365 |
298 | A>G | No |
ClinGen TOPMed |
|
|
rs1247467022 CA356162369 |
298 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2837116 rs776501083 |
299 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746725914 CA2837114 |
300 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2837113 rs777612271 |
301 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs371645916 CA2837111 |
302 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2837109 rs754492184 |
304 | S>F | No |
ClinGen ExAC |
|
|
CA356162318 rs1022120190 |
307 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2837105 rs367815553 |
309 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91764214 rs367815553 |
309 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2837106 rs757651187 |
309 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1165412291 CA356162295 |
310 | D>E | No |
ClinGen gnomAD |
|
|
CA91764174 rs956794431 |
311 | P>L | No |
ClinGen Ensembl |
|
|
CA2837103 rs763122399 |
311 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775667649 CA2837102 |
312 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA356162288 rs1189284180 |
312 | T>S | No |
ClinGen gnomAD |
|
|
rs1041659079 CA91764165 |
313 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1553904184 CA356162275 |
314 | P>L | No |
ClinGen Ensembl |
|
|
CA356162278 rs1451922060 |
314 | P>S | No |
ClinGen gnomAD |
|
|
rs1340998808 CA356162269 |
315 | D>E | No |
ClinGen gnomAD |
|
|
rs577291213 CA2837099 |
315 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356162263 rs1463723821 |
316 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 317 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373607371 CA2837098 |
318 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771881348 CA2837095 |
320 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771881348 CA2837096 |
320 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2837094 rs372231548 |
322 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356162227 rs1436361640 |
323 | C>R | No |
ClinGen gnomAD |
|
|
CA356162193 rs1577759576 |
325 | D>N | No |
ClinGen Ensembl |
|
|
CA91760885 rs566109918 |
327 | Q>E | No |
ClinGen 1000Genomes |
|
|
CA2837075 rs768478598 |
327 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA356162137 rs1204131300 |
329 | T>I | No |
ClinGen TOPMed |
|
|
CA2837073 rs374326359 |
332 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769323304 CA2837072 |
334 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs183322981 CA2837071 |
335 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371310830 CA2837069 |
342 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA91760836 rs923554051 |
343 | V>M | No |
ClinGen TOPMed |
|
|
CA356161933 rs1184127237 |
346 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2837067 rs779247738 |
346 | D>H | No |
ClinGen ExAC |
|
|
rs1482068781 CA356161899 |
349 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 350 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA91760824 rs904384968 |
350 | L>V | No |
ClinGen Ensembl |
|
|
CA356161882 rs1210139716 |
351 | I>F | No |
ClinGen gnomAD |
|
|
rs1560491682 CA917119947 |
353 | E>* | No |
ClinGen Ensembl |
|
|
rs1299174133 CA356161861 |
353 | E>K | No |
ClinGen gnomAD |
|
|
rs1265502252 CA356161845 |
354 | G>S | No |
ClinGen gnomAD |
|
|
rs750337007 CA2837062 |
355 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2837061 rs141437952 |
356 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1292984800 CA356161781 |
360 | E>K | No |
ClinGen TOPMed |
|
|
rs1449890270 CA356161722 |
364 | V>A | No |
ClinGen gnomAD |
|
|
rs370480340 CA2837055 |
364 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs533613606 CA2837053 |
365 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs969134569 CA91760721 |
365 | V>G | No |
ClinGen TOPMed |
|
|
rs533613606 CA2837052 |
365 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2837051 COSM215949 rs748624496 |
367 | D>E | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1456611479 CA356161661 COSM1310164 |
369 | A>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1475945513 CA356161497 |
372 | T>A | No |
ClinGen TOPMed |
|
|
CA356161425 TCGA novel rs1577757667 |
375 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs968396021 CA91759893 |
379 | Q>H | No |
ClinGen Ensembl |
|
|
CA2837025 rs781379290 |
383 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1398712578 CA356161229 |
386 | T>S | No |
ClinGen TOPMed |
|
|
rs757361313 CA2837024 |
387 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356161090 rs751577654 |
393 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2837022 rs377414609 |
400 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356160931 rs1167603120 |
402 | A>V | No |
ClinGen gnomAD |
|
|
CA91759835 rs752604466 |
403 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2837020 rs752604466 |
403 | V>M | Variant assessed as Somatic; 0.0001389 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373011172 CA2837019 |
404 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196194107 CA356160905 |
404 | G>S | No |
ClinGen gnomAD |
|
|
rs201899333 CA91759827 |
406 | D>H | No |
ClinGen Ensembl |
|
|
rs1490946697 CA356160852 |
408 | D>N | No |
ClinGen gnomAD |
|
|
rs780275060 CA2837016 |
409 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA356160754 rs1577757407 |
413 | D>A | No |
ClinGen Ensembl |
|
|
CA2837014 rs774857712 |
413 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM140477 CA356160737 rs1198872212 |
414 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA356160740 rs1484267481 |
414 | P>S | No |
ClinGen TOPMed |
|
|
CA2837011 rs190668040 CA356160718 |
415 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2837012 COSM1202308 rs145169573 |
415 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1229641982 CA356160709 |
416 | K>E | No |
ClinGen gnomAD |
|
|
CA2837009 rs373390925 |
416 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2837008 rs781523712 |
416 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs373390925 CA2837010 |
416 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464078195 CA356160673 |
418 | K>R | No |
ClinGen TOPMed |
|
|
rs1577757288 CA356160664 |
419 | T>P | No |
ClinGen Ensembl |
|
|
CA356160644 rs1398260336 |
420 | I>M | No |
ClinGen gnomAD |
|
|
CA91759710 rs946483184 |
420 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356160642 rs1170295177 |
421 | T>A | No |
ClinGen gnomAD |
|
|
CA2837005 rs777996781 COSM1056400 |
422 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2837004 COSM447985 rs758401728 |
427 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768870212 COSM1486024 CA2836976 |
428 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1577739920 CA356159881 |
429 | V>G | No |
ClinGen Ensembl |
|
|
rs879192554 CA91752779 |
430 | E>G | No |
ClinGen Ensembl |
|
|
rs760073922 CA2836974 |
430 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA91752774 rs879187715 |
431 | Y>D | No |
ClinGen Ensembl |
|
|
rs1490054464 CA356159770 |
436 | G>D | No |
ClinGen gnomAD |
|
|
CA356159736 rs1560484043 |
438 | E>G | No |
ClinGen Ensembl |
|
|
rs112079786 CA91752759 |
439 | C>R | No |
ClinGen Ensembl |
|
|
rs139579016 CA2836970 |
442 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA91752730 rs974371024 |
445 | V>L | No |
ClinGen Ensembl |
|
|
CA356159610 rs1386173274 |
446 | V>A | No |
ClinGen gnomAD |
|
|
CA356159519 rs1463611994 |
451 | K>N | No |
ClinGen gnomAD |
|
|
CA356159534 rs1185424448 |
451 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2836966 rs768538875 COSM1430378 |
453 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs146365732 CA2836965 |
456 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356159461 rs1287440264 |
457 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356159444 rs1377581652 |
459 | I>N | No |
ClinGen TOPMed |
|
|
CA2836963 rs755857404 |
460 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs745552877 CA2836962 |
460 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs34611001 CA2836960 VAR_037745 |
461 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 462 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751088487 CA2836959 |
463 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024707261 CA91752648 |
463 | K>R | No |
ClinGen TOPMed |
|
|
CA2836956 rs754346969 |
465 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2836957 rs755590414 |
465 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs140124818 CA2836958 |
465 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146163071 CA2836955 |
467 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356159393 rs1405146741 |
467 | R>H | No |
ClinGen gnomAD |
|
|
rs370759908 CA2836953 |
470 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370759908 CA356159375 |
470 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201976585 COSM239442 CA2836954 |
470 | P>S | Variant assessed as Somatic; 0.0 impact. prostate breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs768763171 CA2836950 |
471 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2836949 rs768763171 |
471 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2836951 COSM3428575 rs762086490 |
471 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2836948 rs141992841 |
473 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775369390 COSM88528 CA2836947 |
473 | A>V | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA356159359 rs1392466253 |
474 | F>I | No |
ClinGen TOPMed |
|
|
CA91752572 rs911222014 |
475 | P>L | No |
ClinGen TOPMed |
|
|
CA2836945 rs745605874 |
476 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA356159328 rs1202554559 |
478 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 479 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA91752567 rs757384732 COSM1056397 |
481 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA356159308 rs1577739143 |
481 | R>H | No |
ClinGen Ensembl |
|
|
rs149485730 CA2836941 |
482 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757940391 CA2836940 |
484 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2836939 rs754399880 |
485 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1346575481 CA356159276 |
486 | N>T | No |
ClinGen gnomAD |
|
|
rs1051203638 CA91752550 |
487 | K>E | No |
ClinGen Ensembl |
|
|
CA356159062 rs1307924337 |
489 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2836902 rs771914486 |
490 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453483067 CA356159042 |
492 | Q>K | No |
ClinGen gnomAD |
|
|
rs867650926 CA91749063 |
493 | G>E | No |
ClinGen Ensembl |
|
|
CA91749086 rs369274794 CA2836900 |
493 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2836898 rs746396887 |
497 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1175997520 CA356159007 |
498 | M>V | No |
ClinGen TOPMed |
|
|
rs1185018252 CA356158981 |
501 | G>R | No |
ClinGen TOPMed |
|
|
rs1185018252 CA356158982 |
501 | G>S | No |
ClinGen TOPMed |
|
|
CA2836896 rs757578843 |
503 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747466792 CA2836895 |
505 | E>K | No |
ClinGen ExAC |
|
|
CA356158950 rs1445936137 |
506 | V>I | No |
ClinGen gnomAD |
|
|
CA2836894 rs778108731 |
507 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 508 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375021309 CA2836893 |
508 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356077431 CA356158930 |
509 | T>K | No |
ClinGen TOPMed |
|
|
rs1218470184 CA356158924 |
510 | P>L | No |
ClinGen gnomAD |
|
|
CA2836892 rs372770633 |
510 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1314650407 CA356158902 |
513 | A>V | No |
ClinGen gnomAD |
|
|
CA356158901 rs1246743523 |
514 | T>A | No |
ClinGen gnomAD |
|
|
rs1246743523 CA356158900 |
514 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 514 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295548718 CA356158888 |
516 | A>P | No |
ClinGen gnomAD |
|
|
rs1295548718 CA356158889 |
516 | A>T | No |
ClinGen gnomAD |
|
|
rs865879939 CA91749012 |
518 | S>L | No |
ClinGen Ensembl |
|
|
CA2836888 rs766395790 |
519 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1456201616 CA356158866 |
520 | K>E | No |
ClinGen gnomAD |
|
|
CA2836886 rs187171314 COSM179306 |
522 | S>L | Variant assessed as Somatic; 4.674e-05 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 523 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA91748959 rs931871133 |
525 | K>Q | No |
ClinGen Ensembl |
|
|
rs761583442 CA356158829 |
526 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761583442 CA2836884 |
526 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182480399 CA2836882 |
528 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356158807 rs1309653303 |
529 | P>S | No |
ClinGen TOPMed |
|
|
CA2836880 rs532397289 |
530 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1487724776 CA356158801 |
530 | P>S | No |
ClinGen gnomAD |
|
|
rs771536060 CA2836879 |
531 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2836877 rs778160054 |
540 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758722114 CA2836876 |
540 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA356158721 COSM1567295 rs1205078406 |
541 | L>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA356158699 rs1471137174 |
543 | G>D | No |
ClinGen gnomAD |
|
|
rs1384815460 CA356158713 |
543 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356158690 rs1158398166 |
545 | Q>* | No |
ClinGen gnomAD |
|
|
CA2836835 rs146955659 |
546 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2836833 rs746005692 |
546 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA356158679 rs770010840 |
546 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA2836834 rs770010840 |
546 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2836832 rs781419836 |
548 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2836831 rs757302329 |
549 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2836829 rs777646783 |
549 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2836828 rs758089833 |
550 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs764855735 CA2836825 |
552 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356158643 rs1282080513 |
552 | R>K | No |
ClinGen gnomAD |
|
|
COSM1056396 rs1244536819 CA356158636 |
553 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2836824 rs759182182 |
553 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA356158631 rs1577708921 |
554 | T>P | No |
ClinGen Ensembl |
|
|
CA2836822 rs765849718 |
555 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769065864 CA2836819 |
557 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs910781348 CA91740243 COSM1056395 |
557 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs769065864 CA2836820 |
557 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1387354245 CA356158571 |
561 | P>A | No |
ClinGen gnomAD |
|
|
CA91740215 rs987501889 |
563 | G>S | No |
ClinGen TOPMed |
|
| rs1161942169 | 563 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356158526 rs1243731668 |
565 | R>C | No |
ClinGen TOPMed |
|
|
CA356158524 rs1385918607 |
565 | R>H | No |
ClinGen gnomAD |
|
|
rs770211777 CA2836816 |
566 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1577708605 CA356158477 |
569 | T>P | No |
ClinGen Ensembl |
|
|
rs776901530 CA2836814 |
570 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2836815 rs776901530 |
570 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771086650 CA2836812 |
572 | G>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q14194
1 regional properties for Q14194
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Amidohydrolase-related | 64 - 453 | IPR006680 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| filamin binding | Binding to a filamin, any member of a family of high molecular mass cytoskeletal proteins that crosslink actin filaments to form networks and stress fibers. Filamins contain an amino-terminal alpha-actinin-like actin binding domain, which is followed by a rod-domain composed of 4 to 24 100-residue repetitive segments including a carboxy-terminal dimerization domain. |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds. |
| identical protein binding | Binding to an identical protein or proteins. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| negative regulation of actin filament binding | Any process that stops, prevents or reduces the frequency, rate or extent of actin filament binding. |
| negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| nucleobase-containing compound metabolic process | Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q90635 | DPYSL2 | Dihydropyrimidinase-related protein 2 | Gallus gallus (Chicken) | PR |
| Q14195 | DPYSL3 | Dihydropyrimidinase-related protein 3 | Homo sapiens (Human) | PR |
| Q16555 | DPYSL2 | Dihydropyrimidinase-related protein 2 | Homo sapiens (Human) | PR |
| O08553 | Dpysl2 | Dihydropyrimidinase-related protein 2 | Mus musculus (Mouse) | PR |
| Q62188 | Dpysl3 | Dihydropyrimidinase-related protein 3 | Mus musculus (Mouse) | PR |
| P97427 | Crmp1 | Dihydropyrimidinase-related protein 1 | Mus musculus (Mouse) | PR |
| P47942 | Dpysl2 | Dihydropyrimidinase-related protein 2 | Rattus norvegicus (Rat) | PR |
| Q62952 | Dpysl3 | Dihydropyrimidinase-related protein 3 | Rattus norvegicus (Rat) | PR |
| Q9FMP3 | PYD2 | Dihydropyrimidinase | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6GL72 | dpysl3 | Dihydropyrimidinase-related protein 3 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSYQGKKSIP | HITSDRLLIK | GGRIINDDQS | LYADVYLEDG | LIKQIGENLI | VPGGVKTIEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NGRMVIPGGI | DVNTYLQKPS | QGMTAADDFF | QGTRAALVGG | TTMIIDHVVP | EPGSSLLTSF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKWHEAADTK | SCCDYSLHVD | ITSWYDGVRE | ELEVLVQDKG | VNSFQVYMAY | KDVYQMSDSQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LYEAFTFLKG | LGAVILVHAE | NGDLIAQEQK | RILEMGITGP | EGHALSRPEE | LEAEAVFRAI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TIAGRINCPV | YITKVMSKSA | ADIIALARKK | GPLVFGEPIA | ASLGTDGTHY | WSKNWAKAAA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FVTSPPLSPD | PTTPDYLTSL | LACGDLQVTG | SGHCPYSTAQ | KAVGKDNFTL | IPEGVNGIEE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RMTVVWDKAV | ATGKMDENQF | VAVTSTNAAK | IFNLYPRKGR | IAVGSDADVV | IWDPDKLKTI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TAKSHKSAVE | YNIFEGMECH | GSPLVVISQG | KIVFEDGNIN | VNKGMGRFIP | RKAFPEHLYQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RVKIRNKVFG | LQGVSRGMYD | GPVYEVPATP | KYATPAPSAK | SSPSKHQPPP | IRNLHQSNFS |
| 550 | 560 | 570 | |||
| LSGAQIDDNN | PRRTGHRIVA | PPGGRSNITS | LG |