Q05193
PR
Gene name |
DNM1 (DNM) |
Protein name |
Dynamin-1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1759 |
EC number |
3.6.5.5: Acting on GTP; involved in cellular and subcellular movement |
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
15 structures for Q05193
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1DYN | X-ray | 220 A | A/B | 510-633 | PDB |
| 2DYN | X-ray | 230 A | A/B | 509-630 | PDB |
| 2X2E | X-ray | 200 A | PDB | ||
| 2X2F | X-ray | 200 A | PDB | ||
| 3SNH | X-ray | 370 A | A | 6-746 | PDB |
| 3ZYC | X-ray | 220 A | PDB | ||
| 3ZYS | EM | 1220 A | PDB | ||
| 4UUD | EM | 1250 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-864 | PDB |
| 4UUK | EM | 1250 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-864 | PDB |
| 5D3Q | X-ray | 170 A | PDB | ||
| 6DLU | EM | 375 A | B/P | 1-748 | PDB |
| 6DLV | EM | 1010 A | b/c/f/g | 1-748 | PDB |
| 6S9A | X-ray | 200 A | A/B | 6-746 | PDB |
| 7AX3 | EM | 374 A | A/A2/B/B2/C/C2/D/D2/E/E2/F/F2/G/G2/H/H2/I/I2/J/J2/K/L/M/N/O/P/Q/R/S/T | 1-864 | PDB |
| AF-Q05193-F1 | Predicted | AlphaFoldDB |
501 variants for Q05193
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001266378 CA375006286 rs1382648008 |
12 | L>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5257720 rs763288862 RCV000545352 |
15 | R>Q | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000435986 RCV000711480 RCV002311474 rs61757224 RCV000533789 CA5257721 |
16 | L>M | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1833619327 RCV001341808 |
32 | P>L | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1404767209 RCV000696313 CA375006603 |
35 | A>S | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375006653 RCV000493617 rs1131692025 RCV000988256 |
38 | G>S | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1833622746 RCV001243961 |
43 | G>D | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001823739 RCV000623376 CA375006746 rs1554767313 |
43 | G>S | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375006792 rs1554767317 RCV001049240 RCV000623749 |
45 | S>N | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000209889 RCV002284374 rs869312702 CA354188 RCV000626796 |
47 | V>M | Developmental and epileptic encephalopathy, 31 Cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5257749 rs199575353 RCV001314326 RCV000493465 |
67 | R>C | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002314507 CA5257752 RCV001069314 rs551214260 |
75 | N>S | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001350674 rs1206732749 CA375010627 |
98 | R>G | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002318438 rs192913494 CA5257779 RCV000424448 RCV000557080 |
111 | T>S | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001214871 rs776104715 |
117 | P>L | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305797 rs1834758362 |
118 | V>M | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001851030 CA16603343 rs1057520197 RCV000427179 |
120 | I>V | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs368475266 CA200347061 RCV000691521 |
128 | H>R | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000523144 rs1554772913 RCV003223410 CA375010928 |
139 | G>E | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375010925 RCV002289995 rs1564328617 RCV002314449 |
139 | G>R | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1834788549 RCV001296950 |
143 | V>L | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375010963 RCV001027699 rs1588352395 |
144 | P>L | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554772945 RCV000585873 CA375010985 |
148 | Q>K | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000653150 CA375010989 rs1554772959 |
148 | Q>R | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002272318 RCV000658202 CA375011018 rs1554772974 |
153 | E>K | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057518655 RCV000415220 |
155 | Q>M | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587777860 VAR_073710 RCV000144707 CA170925 |
177 | A>P | Developmental and epileptic encephalopathy, 31 DEE31 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1834792032 RCV001262676 |
178 | N>Y | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034359 rs1834848160 |
200 | T>I | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16605486 RCV000444997 rs1057524561 RCV000820178 |
202 | G>R | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_073711 CA170927 rs587777861 RCV000144708 |
206 | K>N | Developmental and epileptic encephalopathy, 31 DEE31 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1588355906 RCV000809888 |
215 | D>T | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM213048 rs753953686 RCV001230088 COSM213047 CA5257852 |
217 | R>H | Developmental and epileptic encephalopathy, 31 breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001319071 CA375012733 rs1444380018 |
228 | R>C | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001314599 rs1834851998 |
229 | R>G | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1834860828 RCV001248316 |
230 | G>D | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805015 rs766504829 CA5257872 |
232 | I>T | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001265881 rs760270633 CA10603152 RCV000263789 VAR_073712 RCV000170498 |
237 | R>W | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases DEE31 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA375012984 RCV000622435 rs1554773487 |
238 | S>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375013227 RCV002060365 rs1422655933 |
250 | A>T | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1456731322 RCV001034324 |
256 | R>* | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1105505 COSM1105506 RCV001296878 CA5257881 CA375013324 rs146211149 |
258 | F>L | Developmental and epileptic encephalopathy, 31 Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD NCI-TCGA |
|
CA375013328 rs1431736054 RCV001040580 |
259 | F>L | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002422825 rs138053929 RCV001585751 RCV000815750 CA5257885 |
266 | R>C | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1105509 CA5257886 COSM1105508 RCV000551713 rs200136679 |
266 | R>H | Developmental and epileptic encephalopathy, 31 endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1834865373 RCV001307413 RCV002418934 |
271 | R>C | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375013559 RCV001063116 rs1156961123 |
275 | P>L | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003224770 CA375014657 rs1588368432 |
284 | Q>* | Developmental and epileptic encephalopathy 31B, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000170499 CA375014786 rs1554774401 |
289 | I>F | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1321080189 RCV001232019 CA375014962 RCV001751451 |
297 | R>Q | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA375015075 rs1564332436 RCV000692472 |
302 | S>N | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA200349771 RCV000698194 rs1052613908 |
307 | I>T | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001342989 rs1835069996 RCV003127818 |
310 | E>G | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588368840 CA375015453 RCV001262852 |
320 | D>H | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000988257 CA200349803 rs868772525 |
329 | L>V | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000623650 rs1554774575 CA375016041 |
346 | G>S | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375016088 rs1247861339 RCV001225982 |
349 | D>E | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA200349960 RCV001302868 rs148695604 |
352 | D>N | Developmental and epileptic encephalopathy, 31 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP |
|
CA170929 rs587777862 RCV000144709 VAR_073713 |
359 | G>A | Developmental and epileptic encephalopathy, 31 DEE31 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1554774587 CA375016258 RCV000624285 RCV000696555 |
359 | G>R | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1835085971 RCV001056857 |
361 | R>G | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000714522 rs1564332930 |
363 | N>LP | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1835087040 RCV001664765 RCV001224103 |
368 | E>K | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262480 rs1835101754 |
380 | D>Y | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1835102166 RCV001328474 |
385 | R>* | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1428107171 CA375016595 RCV001340161 |
385 | R>Q | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000624513 rs1554774708 CA375016699 |
397 | G>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA200350939 RCV000802121 rs866836375 |
416 | Q>E | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000541878 CA5258038 rs200535620 |
421 | R>* | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771062230 RCV001592986 RCV002386419 CA5258049 RCV000800477 |
439 | V>I | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1835857400 RCV001316255 |
449 | Y>H | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750296552 RCV001302855 |
453 | R>L | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5258136 RCV000554180 rs750296552 |
453 | R>Q | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1835858946 RCV001238452 RCV001566835 |
457 | E>D | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA200357676 RCV001051028 rs992608425 RCV000521150 |
464 | I>V | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001855315 RCV000624168 CA5258146 rs769485700 |
467 | R>C | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000705109 rs763830358 CA5258149 |
470 | R>H | Developmental and epileptic encephalopathy, 31 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001345052 rs867314420 |
512 | S>L | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760956595 RCV001067695 CA5258244 |
523 | K>R | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001815349 CA5258245 RCV000813067 RCV002315898 RCV000615896 rs150040014 |
529 | N>S | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554781552 RCV002060692 CA375025843 RCV000623388 |
537 | G>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554781553 CA375025853 RCV000653152 |
539 | K>E | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772239774 RCV000612565 CA5258329 RCV000543736 |
591 | T>M | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000806719 CA375027838 rs1588449769 |
596 | V>I | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1588449811 CA375028006 RCV000804727 |
604 | E>K | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564352065 RCV000691549 CA375028325 |
617 | K>R | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375028522 RCV001034016 rs1295777740 |
630 | V>A | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1836896799 RCV001203461 |
630 | V>I | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1333859821 RCV001063755 CA375028528 |
631 | G>R | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001308002 rs748362979 |
641 | E>missing | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763245663 RCV001221699 CA5258399 |
643 | G>D | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754501788 RCV001562604 CA5258403 RCV001034161 |
645 | D>N | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375000415 RCV002275140 rs1437208936 RCV000653151 |
670 | M>T | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001034515 rs1432815882 |
719 | A>G | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588457823 RCV000794739 CA375000814 |
720 | E>G | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1829428293 RCV001051174 |
724 | R>Q | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1414107946 RCV001322615 CA375000845 |
725 | R>C | Developmental and epileptic encephalopathy, 31 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs745835138 CA5258428 RCV002431803 RCV000604339 RCV001306355 |
726 | D>E | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001056133 rs754280238 |
751 | S>R | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1829434336 RCV001309327 |
766 | Q>* | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375001425 rs1490577876 RCV001352474 |
776 | T>K | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375001535 rs1363606775 RCV000555987 |
787 | A>V | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002317556 rs1486970211 RCV002533052 CA375001624 RCV003106036 |
797 | G>V | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000695640 RCV002446711 rs935756107 CA16605334 RCV001704400 |
807 | S>C | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001202158 CA375001731 rs1474835177 |
808 | A>V | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs888747029 RCV001692288 CA200323389 RCV000820268 RCV002442750 |
810 | G>V | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1564355265 CA375001801 RCV002316790 |
816 | P>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131692001 RCV000493046 RCV001367355 CA375001828 |
819 | P>S | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002445311 rs1295591580 RCV001059705 |
825 | P>L | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA200323410 rs901408697 RCV001065100 |
828 | P>L | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002544845 CA375002084 RCV001458683 rs1564355393 |
844 | P>R | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1829479381 RCV001071368 |
845 | S>N | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653162 RCV001405524 rs752575279 |
846 | R>* | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229471 rs758567328 |
846 | R>P | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199498658 RCV000653167 RCV000419441 |
847 | S>L | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295660 rs1564358652 |
848 | G>missing | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757501966 RCV002317539 |
854 | R>C | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000999224 RCV002427449 rs781345149 RCV003106090 |
854 | R>H | Developmental and epileptic encephalopathy, 31 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001474787 RCV002318216 rs187315526 |
861 | P>H | Developmental and epileptic encephalopathy, 31 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314067 rs1244967245 |
862 | F>missing | Developmental and epileptic encephalopathy, 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs986129698 CA375006178 |
4 | R>C | No |
ClinGen TOPMed |
|
|
CA200334453 rs986129698 |
4 | R>G | No |
ClinGen TOPMed |
|
|
CA5257717 rs759483040 |
5 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200334471 rs769986411 |
7 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375006249 rs1161899413 |
8 | D>E | No |
ClinGen gnomAD |
|
|
CA375006235 rs1444303998 |
8 | D>H | No |
ClinGen gnomAD |
|
|
rs775423550 CA200334487 |
11 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5257719 rs775423550 |
11 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA200334489 rs969698049 |
13 | V>A | No |
ClinGen TOPMed |
|
|
RCV000493106 rs1131691398 CA375006374 |
19 | A>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1245923175 CA375006409 |
22 | A>V | No |
ClinGen gnomAD |
|
|
rs1211113169 CA375006471 |
27 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5257723 rs762189357 |
28 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750933399 CA5257725 |
29 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5257727 rs778543086 |
30 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA5257726 rs756572497 |
30 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1458807270 CA375006554 |
33 | Q>E | No |
ClinGen gnomAD |
|
|
rs752123322 CA5257728 |
33 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA375006661 rs1379393104 |
38 | G>D | No |
ClinGen gnomAD |
|
|
rs1396976779 CA375006669 |
39 | G>S | No |
ClinGen gnomAD |
|
|
CA375006709 rs1564315125 |
41 | S>C | No |
ClinGen Ensembl |
|
|
rs770857641 CA5257732 |
42 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA375006733 rs770857641 |
42 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000494293 CA375006782 rs1131692028 |
44 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1588294426 CA375006837 |
48 | L>I | No |
ClinGen Ensembl |
|
|
rs931916411 CA200346833 |
57 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375010186 rs1588348949 |
65 | T>P | No |
ClinGen Ensembl |
|
|
rs1166353872 CA375010235 |
70 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781185286 CA375010274 |
72 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375010308 rs1399297380 |
77 | T>N | No |
ClinGen gnomAD |
|
|
rs1367423217 CA375010405 |
83 | F>L | No |
ClinGen gnomAD |
|
|
rs1299463784 CA375010445 |
85 | H>Q | No |
ClinGen TOPMed |
|
|
CA5257771 rs200251552 |
88 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM280547 COSM280546 CA375010502 rs1229779896 |
89 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1224690812 CA375010594 |
95 | E>D | No |
ClinGen gnomAD |
|
|
CA375010589 rs1316212573 |
95 | E>G | No |
ClinGen gnomAD |
|
|
CA200347032 rs916355680 |
96 | E>K | No |
ClinGen Ensembl |
|
|
CA5257774 rs748195071 |
98 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5257775 rs772095064 |
100 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1316414825 CA375010707 |
105 | T>I | No |
ClinGen gnomAD |
|
|
CA5257777 rs747193362 |
106 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM269049 COSM269050 CA375010717 rs1476780263 |
107 | R>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5257780 rs760172356 |
113 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375010778 rs1194467999 |
116 | S>L | No |
ClinGen TOPMed |
|
|
CA375010780 rs1451180064 |
117 | P>A | No |
ClinGen TOPMed |
|
|
CA5257782 rs776104715 |
117 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761430518 CA5257783 |
119 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1449972118 CA375010792 |
119 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1053339243 CA200347057 |
121 | N>K | No |
ClinGen gnomAD |
|
|
CA375010806 rs1588350453 |
121 | N>T | No |
ClinGen Ensembl |
|
|
CA375010814 rs1290109503 |
123 | R>S | No |
ClinGen gnomAD |
|
|
rs1202438385 CA375010828 |
125 | Y>H | No |
ClinGen gnomAD |
|
|
rs1276070841 CA375010835 |
126 | S>P | No |
ClinGen gnomAD |
|
|
CA375010848 rs1443727316 |
128 | H>Y | No |
ClinGen gnomAD |
|
|
CA375010855 rs1238480254 |
129 | V>M | No |
ClinGen gnomAD |
|
|
CA5257813 rs781503957 |
140 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1834789296 RCV001092368 |
147 | D>E | No |
ClinVar dbSNP |
|
| TCGA novel | 147 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770287739 CA5257815 |
150 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5257817 rs749870166 |
151 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935840154 CA200347318 |
159 | M>I | No |
ClinGen TOPMed |
|
|
CA200347316 rs994732590 |
159 | M>T | No |
ClinGen Ensembl |
|
|
rs772636298 CA5257819 |
160 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375011179 rs1355381156 |
164 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 166 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 167 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746559414 CA5257820 |
171 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs587777860 CA200347335 |
177 | A>T | No |
ClinGen Ensembl |
|
|
RCV000762573 rs1564328788 CA375011460 |
179 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs776275818 CA5257822 |
181 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000483428 rs1064795360 CA16618752 |
182 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5257825 rs141079649 |
188 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375011627 rs141079649 |
188 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs904992382 CA200347359 |
191 | K>N | No |
ClinGen Ensembl |
|
|
rs1248836899 CA375011709 |
193 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375011731 rs1423033360 |
195 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5257827 rs780514615 |
195 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375011729 rs1423033360 |
195 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1485891906 CA375012156 |
199 | R>C | No |
ClinGen gnomAD |
|
|
rs1204100803 CA375012161 |
199 | R>H | No |
ClinGen gnomAD |
|
|
CA375012209 rs1484030185 |
201 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1588355811 CA375012243 |
203 | V>G | No |
ClinGen Ensembl |
|
|
rs1266105274 CA375012228 |
203 | V>I | No |
ClinGen gnomAD |
|
|
CA375012249 rs1177821663 |
204 | I>V | No |
ClinGen gnomAD |
|
|
rs1435742872 CA375012358 |
209 | L>P | No |
ClinGen gnomAD |
|
|
CA375012413 rs1345168529 |
212 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA375012520 rs1299220134 |
217 | R>C | No |
ClinGen gnomAD |
|
|
CA200347918 rs996527941 |
222 | N>S | No |
ClinGen Ensembl |
|
|
CA5257853 rs755378793 |
223 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866946278 CA200347944 |
228 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1019653386 CA200348007 |
232 | I>V | No |
ClinGen TOPMed |
|
|
rs1588356630 CA375012930 |
235 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 236 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200348024 rs994101485 |
237 | R>Q | No |
ClinGen Ensembl |
|
|
rs1027796349 CA200348027 |
240 | K>E | No |
ClinGen Ensembl |
|
|
CA5257874 rs138357499 |
242 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765690901 CA5257875 |
243 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375013262 rs752005713 |
253 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5257879 rs752005713 |
253 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA200348086 rs766566950 |
254 | A>V | No |
ClinGen Ensembl |
|
|
CA375013296 rs1456731322 |
256 | R>G | No |
ClinGen gnomAD |
|
|
COSM1554360 COSM1554359 CA5257880 rs755625989 |
256 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA375013347 rs1312428491 |
260 | L>H | No |
ClinGen gnomAD |
|
|
rs1376656660 CA375013381 |
262 | H>Q | No |
ClinGen gnomAD |
|
|
rs930963855 COSM1701782 COSM1701783 CA200348114 |
263 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 264 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375013395 rs1293777132 |
264 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778811040 CA5257884 |
264 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200136679 CA5257887 |
266 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201656136 CA5257891 |
271 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318464360 CA375013550 |
274 | T>A | No |
ClinGen TOPMed |
|
|
rs1284660372 CA375013552 |
274 | T>M | No |
ClinGen TOPMed |
|
|
CA375013554 rs1472308743 |
275 | P>T | No |
ClinGen gnomAD |
|
|
rs752917058 CA5257893 |
276 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA375013595 rs1262395713 |
278 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5257894 rs763322103 |
279 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375013634 rs1415413717 |
280 | V>A | No |
ClinGen TOPMed |
|
|
rs752130871 CA5257896 |
282 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375014689 RCV000493064 rs1131691877 |
285 | L>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375014708 rs1275671340 |
286 | T>M | No |
ClinGen gnomAD |
|
|
rs1198177450 CA375014813 |
290 | R>W | No |
ClinGen gnomAD |
|
|
CA5257925 rs777759824 |
292 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1427530883 CA375014894 |
294 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1321080189 CA375014967 |
297 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs933803259 CA200349745 |
297 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs781007168 CA5257928 |
300 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs745752040 CA5257929 |
306 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 309 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225610175 CA375015189 |
310 | E>Q | No |
ClinGen gnomAD |
|
|
rs1452948553 CA375015231 |
311 | V>A | No |
ClinGen gnomAD |
|
|
rs1452948553 CA375015232 |
311 | V>G | No |
ClinGen gnomAD |
|
|
CA375015340 rs1271395961 |
315 | K>E | No |
ClinGen gnomAD |
|
|
rs528406413 CA5257932 |
315 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1564332523 CA375015347 |
315 | K>R | No |
ClinGen Ensembl |
|
|
rs1214581005 CA375015360 |
316 | N>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 316 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200349788 rs892194903 COSM1582786 COSM1582787 |
318 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM1733112 CA5257933 rs376056729 COSM1733113 |
318 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA375015421 rs376056729 |
318 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373492406 CA5257935 |
319 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375015476 rs1588368850 |
320 | D>E | No |
ClinGen Ensembl |
|
|
CA375015508 rs767861903 |
321 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773592845 CA5257937 |
324 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200349926 rs1016984419 |
332 | M>R | No |
ClinGen TOPMed |
|
|
rs374403477 CA200349955 |
338 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs778955338 CA5257968 |
343 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1181319175 CA375015983 |
343 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA375015986 rs1181319175 |
343 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1064794903 CA16618753 RCV000486368 |
346 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs778530375 CA200349959 |
351 | I>T | No |
ClinGen Ensembl |
|
|
CA5257970 rs772314897 |
355 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1835085404 RCV001268498 |
356 | L>R | No |
ClinVar dbSNP |
|
|
RCV000484549 CA16618754 rs1064794828 |
358 | G>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 359 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172228858 COSM421952 CA375016279 COSM421953 |
361 | R>H | urinary_tract Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1564332919 CA375016308 |
364 | R>G | No |
ClinGen Ensembl |
|
|
CA375016310 rs1420929016 COSM256802 COSM256803 |
364 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1435931343 CA375016320 |
365 | I>T | No |
ClinGen gnomAD |
|
|
CA375016326 rs1307908082 |
366 | F>V | No |
ClinGen gnomAD |
|
|
rs1330796887 CA375016442 |
374 | L>M | No |
ClinGen gnomAD |
|
|
CA375016537 rs1247269957 RCV001171880 |
377 | M>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA375016535 rs1465473578 |
377 | M>T | No |
ClinGen gnomAD |
|
|
rs775824391 CA5257996 |
379 | F>L | No |
ClinGen ExAC |
|
|
rs1064795538 RCV000478915 CA16618755 |
390 | Y>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5257999 rs144768415 |
391 | A>V | No |
ClinGen ESP ExAC |
|
| TCGA novel | 392 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430846684 CA375016652 |
393 | K>R | No |
ClinGen gnomAD |
|
|
RCV001268587 rs1835103161 |
394 | N>D | No |
ClinVar dbSNP |
|
|
rs1588370806 CA375016665 |
395 | I>F | No |
ClinGen Ensembl |
|
|
CA5258029 rs750618124 |
400 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553162657 CA5258033 |
407 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553162657 CA5258034 |
407 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746551789 CA5258035 |
412 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs770377835 CA5258036 |
412 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780836515 CA5258037 |
415 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA200350940 rs866836375 |
416 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 419 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 419 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290900328 CA375018359 |
420 | I>N | No |
ClinGen TOPMed |
|
|
CA5258040 rs769689269 |
421 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA5258039 rs769689269 |
421 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA375018463 rs1373361613 |
423 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1323523230 CA375018575 |
426 | K>R | No |
ClinGen TOPMed |
|
|
rs868805405 CA200350954 |
428 | V>L | No |
ClinGen Ensembl |
|
|
rs762000203 CA5258044 |
433 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5258045 rs767642250 |
434 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs377595837 CA5258046 |
436 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5258050 rs755327329 |
440 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs779417138 CA5258051 |
441 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs369128054 CA5258052 |
443 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234668302 CA375019053 |
443 | T>N | No |
ClinGen gnomAD |
|
|
CA5258053 rs756764400 |
444 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375019117 rs1193211740 |
444 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1164933401 CA375019151 |
445 | K>T | No |
ClinGen TOPMed |
|
|
rs1352962318 CA375022668 |
448 | Q>H | No |
ClinGen gnomAD |
|
|
rs868824615 CA200357615 |
448 | Q>K | No |
ClinGen Ensembl |
|
|
rs1329661423 CA375022673 |
449 | Y>C | No |
ClinGen TOPMed |
|
|
rs1329661423 CA375022675 |
449 | Y>S | No |
ClinGen TOPMed |
|
|
rs989385419 CA200357616 |
450 | P>L | No |
ClinGen gnomAD |
|
|
rs1380787820 CA375022687 |
451 | R>Q | No |
ClinGen gnomAD |
|
|
rs1322707318 CA375022684 |
451 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5258135 rs368427334 |
453 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs865967821 CA200357633 |
456 | M>I | No |
ClinGen Ensembl |
|
|
rs1588408950 CA375022723 |
457 | E>G | No |
ClinGen Ensembl |
|
|
CA200357634 rs868047356 |
458 | R>H | No |
ClinGen gnomAD |
|
|
CA5258138 rs780097716 |
460 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5258140 rs755200765 |
462 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA375022754 rs1156753559 |
462 | T>S | No |
ClinGen gnomAD |
|
|
rs748564448 CA5258142 |
463 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375022756 rs1181916340 |
463 | H>Y | No |
ClinGen TOPMed |
|
|
COSM455393 CA5258144 rs773857861 COSM455394 |
465 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1701784 COSM1701785 CA5258143 rs772264918 |
465 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1564341767 CA375022772 |
466 | E>K | No |
ClinGen Ensembl |
|
|
CA375022786 COSM1729580 rs1372243765 COSM1729579 |
467 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1285073341 CA375022802 |
468 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 468 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762553379 CA5258148 |
470 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762553379 CA200357696 |
470 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1218027303 CA375022877 |
473 | E>D | No |
ClinGen gnomAD |
|
|
CA375024058 rs141788807 |
479 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375024064 rs1363758596 |
480 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 480 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778321233 CA375024118 |
481 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758525847 CA5258177 |
481 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1007751329 CA200359877 |
482 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1564345321 CA375024200 |
484 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 486 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406155417 CA375024294 |
486 | M>T | No |
ClinGen TOPMed |
|
| rs1044394311 | 497 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760473584 CA5258196 |
504 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 510 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418432768 CA375025076 |
511 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200360031 rs867314420 |
512 | S>* | No |
ClinGen Ensembl |
|
|
rs759375877 CA5258200 |
514 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775449571 CA5258219 |
518 | I>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1489688 rs1275813509 COSM1489687 CA375025740 |
522 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA375025749 rs1272074717 |
523 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 524 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424662374 CA375025755 |
524 | G>V | No |
ClinGen TOPMed |
|
|
rs1588431858 CA375025771 |
527 | T>A | No |
ClinGen Ensembl |
|
|
CA375025778 rs1321514509 |
528 | I>V | No |
ClinGen gnomAD |
|
|
RCV000497794 rs1554781545 CA375025829 |
535 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5258246 rs754404446 |
536 | G>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000413377 CA16042667 rs754404446 |
536 | G>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 550 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 555 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 556 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 560 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756358343 CA5258319 |
562 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 564 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 566 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5258323 rs145318071 |
569 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748647924 CA5258324 |
575 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 580 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 592 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375027912 rs756127013 |
598 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207112230 CA375027972 |
601 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5258339 rs749463614 |
603 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA5258338 rs201231277 |
603 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA375028015 rs1208512041 |
604 | E>G | No |
ClinGen gnomAD |
|
|
rs1271142651 CA375028061 |
606 | A>V | No |
ClinGen gnomAD |
|
|
CA5258341 rs779129194 |
614 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA375028391 rs1430520208 |
621 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 623 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170959842 CA375028428 |
623 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748709141 CA5258342 |
625 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295177619 CA375028481 |
627 | P>S | No |
ClinGen gnomAD |
|
|
CA5258343 rs772740654 |
629 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs778378392 CA5258344 |
629 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745386856 CA5258345 |
631 | G>V | No |
ClinGen ExAC |
|
| rs765405025 | 636 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588453144 CA375000196 |
638 | E>K | No |
ClinGen Ensembl |
|
|
rs558611667 CA200322546 |
639 | T>S | No |
ClinGen Ensembl |
|
|
rs143374099 CA5258396 |
640 | E>K | Variant assessed as Somatic; 9.244e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 641 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763245663 CA5258397 |
643 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs763245663 CA5258398 |
643 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs767913319 CA5258401 |
644 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5258404 rs778368437 |
647 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1323426610 CA375000266 |
648 | M>T | No |
ClinGen gnomAD |
|
|
CA5258405 rs200057370 |
649 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202117494 CA200322560 |
651 | M>L | No |
ClinGen 1000Genomes |
|
|
rs777360250 CA5258407 |
663 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA375000388 rs1344882160 |
666 | V>A | No |
ClinGen gnomAD |
|
|
rs371779715 CA5258408 |
667 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs973831370 CA200322588 |
670 | M>V | No |
ClinGen Ensembl |
|
|
rs1225449844 CA375000420 |
671 | A>T | No |
ClinGen gnomAD |
|
|
CA5258409 rs537645747 |
672 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs537645747 CA5258410 |
672 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5258411 rs745806993 |
677 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 678 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253786561 CA375000481 |
680 | L>F | No |
ClinGen TOPMed |
|
|
rs1564353206 CA375000489 |
681 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 683 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs966338819 CA200322605 |
691 | N>H | No |
ClinGen TOPMed |
|
|
rs1347869398 CA375000601 |
695 | E>Q | No |
ClinGen gnomAD |
|
|
CA375000624 rs1164300279 |
698 | F>I | No |
ClinGen Ensembl |
|
|
CA375000636 rs1206547469 |
699 | S>A | No |
ClinGen gnomAD |
|
|
rs923797389 CA200323166 |
713 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs935150035 CA200323173 |
715 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757058430 CA5258426 |
719 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs1432815882 CA375000809 |
719 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 722 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562370038 CA200323186 |
722 | A>S | No |
ClinGen gnomAD |
|
|
COSM1460204 CA375000840 rs1386035686 COSM1460203 |
724 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1414107946 CA375000846 |
725 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5258429 rs140234146 |
727 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1384636166 CA375000859 |
727 | E>K | No |
ClinGen gnomAD |
|
|
CA5258430 rs780080751 |
729 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA375000878 rs10987947 |
730 | R>C | No |
ClinGen TOPMed |
|
|
rs10987947 CA200323195 |
730 | R>S | No |
ClinGen TOPMed |
|
|
CA5258432 rs768852075 |
731 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333882782 CA375000882 |
731 | M>V | No |
ClinGen gnomAD |
|
|
CA375000894 rs1392559715 |
732 | Y>C | No |
ClinGen Ensembl |
|
|
rs772375986 CA5258433 |
733 | H>L | No |
ClinGen ExAC |
|
|
rs895613880 CA200323196 |
733 | H>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 733 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375000905 rs1186378541 |
734 | A>T | No |
ClinGen TOPMed |
|
|
COSM487075 COSM487076 rs528033412 CA200323197 |
734 | A>V | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs945808505 CA200323203 |
736 | K>T | No |
ClinGen gnomAD |
|
|
rs773654559 CA5258437 |
739 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs145381151 CA200323206 |
740 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs1210291042 CA375000945 |
740 | S>N | No |
ClinGen TOPMed |
|
|
rs145381151 CA375000943 |
740 | S>R | No |
ClinGen ESP TOPMed |
|
|
VAR_048904 CA200323207 rs1042007 |
744 | D>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA375001006 rs1281626405 |
745 | I>F | No |
ClinGen TOPMed |
|
|
CA5258439 rs766887457 |
746 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1588458099 CA375001058 |
748 | T>P | No |
ClinGen Ensembl |
|
|
rs1292489464 CA375001178 |
756 | P>A | No |
ClinGen TOPMed |
|
|
rs1412829457 CA375001184 |
756 | P>R | No |
ClinGen TOPMed |
|
|
CA5258443 rs371647315 |
759 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375001255 rs1394327874 |
762 | W>* | No |
ClinGen gnomAD |
|
|
rs1329965102 CA375001282 |
765 | V>L | No |
ClinGen gnomAD |
|
|
CA375001281 rs1329965102 |
765 | V>M | No |
ClinGen gnomAD |
|
|
rs1323768271 CA375001339 |
770 | A>V | No |
ClinGen gnomAD |
|
|
CA16618756 RCV000485551 rs1064794773 |
771 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 772 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5258446 rs750256131 |
772 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1479951029 CA375001362 |
773 | R>K | No |
ClinGen gnomAD |
|
|
rs1220433114 CA375001406 |
774 | S>L | No |
ClinGen gnomAD |
|
|
CA375001478 rs1170847220 |
781 | P>L | No |
ClinGen gnomAD |
|
|
CA375001493 rs1294520095 |
783 | R>C | No |
ClinGen Ensembl |
|
|
CA375001507 rs1588459741 |
784 | R>P | No |
ClinGen Ensembl |
|
|
rs779015426 CA5258452 |
785 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286706539 CA375001527 |
787 | A>T | No |
ClinGen gnomAD |
|
|
rs1296729681 CA375001538 |
788 | V>L | No |
ClinGen gnomAD |
|
|
rs1382770942 CA375001573 |
791 | A>V | No |
ClinGen gnomAD |
|
|
CA375001585 rs1360197057 |
793 | P>S | No |
ClinGen gnomAD |
|
|
rs1588459851 CA375001601 |
795 | S>A | No |
ClinGen Ensembl |
|
|
rs1259228242 CA375001616 |
797 | G>S | No |
ClinGen gnomAD |
|
|
rs1242245532 CA375001681 |
803 | P>Q | No |
ClinGen gnomAD |
|
|
CA375001747 rs888747029 |
810 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1353174747 CA375001762 |
812 | A>E | No |
ClinGen TOPMed |
|
| rs747024881 | 812 | A>R | Variant assessed as Somatic; 0.008333 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375001758 rs1399664504 |
812 | A>T | No |
ClinGen gnomAD |
|
|
rs1269148577 CA375001767 |
813 | P>T | No |
ClinGen TOPMed |
|
|
CA200323399 rs1019848298 |
820 | G>R | No |
ClinGen Ensembl |
|
|
CA375001851 rs1321656202 |
821 | A>S | No |
ClinGen gnomAD |
|
|
CA375001863 rs1405721301 |
822 | S>F | No |
ClinGen gnomAD |
|
|
CA200323404 rs1048565011 |
823 | P>L | No |
ClinGen TOPMed |
|
|
CA375001893 rs1295591580 |
825 | P>H | No |
ClinGen TOPMed |
|
|
CA375001888 rs1317840541 |
825 | P>T | No |
ClinGen gnomAD |
|
|
CA375001914 rs1384149883 |
827 | G>S | No |
ClinGen gnomAD |
|
|
CA375001921 rs1223360204 |
827 | G>V | No |
ClinGen gnomAD |
|
|
rs1344664960 CA375001936 |
829 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 830 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318970905 CA375001942 |
830 | P>S | No |
ClinGen gnomAD |
|
|
CA375001964 rs1229161952 |
832 | V>L | No |
ClinGen gnomAD |
|
|
CA375002015 rs1205305266 |
837 | N>I | No |
ClinGen gnomAD |
|
|
rs1006999214 CA200323439 |
843 | V>I | No |
ClinGen TOPMed |
|
| rs758567328 | 846 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 860 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q05193
No regional properties for Q05193
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q05193 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.5.5 | Acting on GTP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| membrane coat | Any of several different proteinaceous coats that can associate with membranes. Membrane coats include those formed by clathrin plus an adaptor complex, the COPI and COPII complexes, and possibly others. They are found associated with membranes on many vesicles as well as other membrane features such as pits and perhaps tubules. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| photoreceptor inner segment | The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs. |
| photoreceptor ribbon synapse | A ribbon synapse between a retinal photoreceptor cell (rod or cone) and a retinal bipolar cell. These contain a plate-like synaptic ribbon. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic endocytic zone membrane | The region of the presynaptic membrane that is part of the presynaptic endocytic zone - where synaptic vesicles are endocytosed and recycled following release. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| endosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of endosomes. |
| modulation of chemical synaptic transmission | Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. |
| receptor internalization | A receptor-mediated endocytosis process that results in the movement of receptors from the plasma membrane to the inside of the cell. The process begins when cell surface receptors are monoubiquitinated following ligand-induced activation. Receptors are subsequently taken up into endocytic vesicles from where they are either targeted to the lysosome or vacuole for degradation or recycled back to the plasma membrane. |
| receptor-mediated endocytosis | An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. |
| synaptic vesicle budding from presynaptic endocytic zone membrane | Evagination of the presynaptic membrane, resulting in the formation of a new synaptic vesicle. |
| synaptic vesicle endocytosis | A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms. |
| toxin transport | The directed movement of a toxin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O00429 | DNM1L | Dynamin-1-like protein | Homo sapiens (Human) | PR |
| Q9UQ16 | DNM3 | Dynamin-3 | Homo sapiens (Human) | PR |
| Q8K1M6 | Dnm1l | Dynamin-1-like protein | Mus musculus (Mouse) | PR |
| Q8BZ98 | Dnm3 | Dynamin-3 | Mus musculus (Mouse) | PR |
| P39053 | Dnm1 | Dynamin-1 | Mus musculus (Mouse) | PR |
| O35303 | Dnm1l | Dynamin-1-like protein | Rattus norvegicus (Rat) | PR |
| Q08877 | Dnm3 | Dynamin-3 | Rattus norvegicus (Rat) | PR |
| P21575 | Dnm1 | Dynamin-1 | Rattus norvegicus (Rat) | PR |
| Q8LF21 | DRP1C | Phragmoplastin DRP1C | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8S3C9 | DRP1D | Phragmoplastin DRP1D | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGNRGMEDLI | PLVNRLQDAF | SAIGQNADLD | LPQIAVVGGQ | SAGKSSVLEN | FVGRDFLPRG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGIVTRRPLV | LQLVNATTEY | AEFLHCKGKK | FTDFEEVRLE | IEAETDRVTG | TNKGISPVPI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NLRVYSPHVL | NLTLVDLPGM | TKVPVGDQPP | DIEFQIRDML | MQFVTKENCL | ILAVSPANSD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LANSDALKVA | KEVDPQGQRT | IGVITKLDLM | DEGTDARDVL | ENKLLPLRRG | YIGVVNRSQK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DIDGKKDITA | ALAAERKFFL | SHPSYRHLAD | RMGTPYLQKV | LNQQLTNHIR | DTLPGLRNKL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QSQLLSIEKE | VEEYKNFRPD | DPARKTKALL | QMVQQFAVDF | EKRIEGSGDQ | IDTYELSGGA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RINRIFHERF | PFELVKMEFD | EKELRREISY | AIKNIHGIRT | GLFTPDMAFE | TIVKKQVKKI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| REPCLKCVDM | VISELISTVR | QCTKKLQQYP | RLREEMERIV | TTHIREREGR | TKEQVMLLID |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IELAYMNTNH | EDFIGFANAQ | QRSNQMNKKK | TSGNQDEILV | IRKGWLTINN | IGIMKGGSKE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YWFVLTAENL | SWYKDDEEKE | KKYMLSVDNL | KLRDVEKGFM | SSKHIFALFN | TEQRNVYKDY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RQLELACETQ | EEVDSWKASF | LRAGVYPERV | GDKEKASETE | ENGSDSFMHS | MDPQLERQVE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TIRNLVDSYM | AIVNKTVRDL | MPKTIMHLMI | NNTKEFIFSE | LLANLYSCGD | QNTLMEESAE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QAQRRDEMLR | MYHALKEALS | IIGDINTTTV | STPMPPPVDD | SWLQVQSVPA | GRRSPTSSPT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PQRRAPAVPP | ARPGSRGPAP | GPPPAGSALG | GAPPVPSRPG | ASPDPFGPPP | QVPSRPNRAP |
| 850 | 860 | ||||
| PGVPSRSGQA | SPSRPESPRP | PFDL |