Q13144
PR
Gene name |
EIF2B5 (EIF2BE) |
Protein name |
Translation initiation factor eIF-2B subunit epsilon |
Names |
eIF-2B GDP-GTP exchange factor subunit epsilon |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8893 |
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
24 structures for Q13144
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3JUI | X-ray | 200 A | A | 548-721 | PDB |
| 6CAJ | EM | 280 A | A/B | 1-721 | PDB |
| 6EZO | EM | 410 A | I/J | 1-721 | PDB |
| 6K71 | EM | 430 A | I/J | 1-721 | PDB |
| 6K72 | EM | 460 A | I/J | 1-721 | PDB |
| 6O81 | EM | 321 A | A/B | 1-721 | PDB |
| 6O85 | EM | 303 A | A/B | 1-721 | PDB |
| 6O9Z | EM | 303 A | A/B | 1-721 | PDB |
| 7D43 | EM | 430 A | I/J | 1-721 | PDB |
| 7D44 | EM | 400 A | I/J | 1-721 | PDB |
| 7D45 | EM | 380 A | I/J | 1-721 | PDB |
| 7D46 | EM | 400 A | I/J | 1-721 | PDB |
| 7F64 | EM | 242 A | I/J | 1-721 | PDB |
| 7F66 | EM | 276 A | I/J | 1-721 | PDB |
| 7F67 | EM | 359 A | I/J | 1-721 | PDB |
| 7KMF | EM | 291 A | B/I | 1-721 | PDB |
| 7L70 | EM | 280 A | A/B | 1-721 | PDB |
| 7L7G | EM | 300 A | A/B | 1-721 | PDB |
| 7RLO | EM | 260 A | A/B | 1-721 | PDB |
| 7TRJ | EM | 280 A | A/B | 1-721 | PDB |
| 7VLK | EM | 227 A | I/J | 1-721 | PDB |
| 8TQO | EM | 310 A | A | 1-721 | PDB |
| 8TQZ | EM | 290 A | A/B | 1-721 | PDB |
| AF-Q13144-F1 | Predicted | AlphaFoldDB |
563 variants for Q13144
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001197221 rs372850426 CA2726299 RCV001859189 |
2 | A>V | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000384990 rs886058213 CA10618154 |
39 | P>A | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001253969 CA2726321 RCV002570549 rs199637444 |
45 | A>G | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA340484 rs121908541 RCV003221418 |
56 | F>C | Leukoencephalopathy with vanishing white matter 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340482 RCV003221417 rs113994043 RCV001851695 |
56 | F>V | Leukoencephalopathy with vanishing white matter 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000283577 CA2726330 rs550470093 |
61 | K>R | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_068457 CA355381396 rs1560105986 |
62 | D>V | VWM [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
VAR_068458 CA2726343 rs113994044 |
68 | L>S | VWM [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs113994045 VAR_012323 CA88840226 |
73 | V>G | VWM [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs113994046 VAR_068459 CA88840228 |
74 | A>T | VWM [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000281339 RCV001833341 CA2726345 rs113994047 |
81 | E>K | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs28939717 RCV000255738 RCV003221408 VAR_012291 CA340473 RCV000006305 |
91 | T>A | Leukoencephalopathy with vanishing white matter 5 Vanishing white matter disease VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2726353 RCV000379117 rs150531914 RCV000998166 |
100 | A>V | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA346861 rs113994048 VAR_012324 RCV000624816 RCV000724783 RCV000175759 |
106 | L>F | Vanishing white matter disease Inborn genetic diseases VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_068460 rs113994050 RCV000853414 CA2726376 RCV001377730 |
113 | R>C | Vanishing white matter disease VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000254893 rs113994049 CA117878 RCV003221411 RCV000006308 RCV001420331 VAR_012292 |
113 | R>H | Leukoencephalopathy with vanishing white matter 5 Vanishing white matter disease VWM; with ovarian failure [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1365253275 RCV000678338 RCV001766454 CA355381777 |
117 | L>V | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001144202 CA2726380 rs144443995 RCV002557078 |
121 | R>Q | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001385130 CA88840414 rs958193703 RCV000987370 |
136 | R>H | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000416181 rs113994053 RCV003221415 CA340479 |
182 | T>M | Leukoencephalopathy with vanishing white matter 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_016845 rs113994055 RCV002512827 RCV003221414 CA117879 |
195 | R>C | Leukoencephalopathy with vanishing white matter 5 VWM; with ovarian failure [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
VAR_016846 RCV003221412 RCV000006310 rs113994054 CA340476 RCV001064868 |
195 | R>H | Leukoencephalopathy with vanishing white matter 5 Vanishing white matter disease VWM; Cree leukoencephalopathy type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1057520047 RCV001828391 CA16603159 RCV000419089 |
205 | V>M | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001146098 CA2726436 rs747875505 |
221 | L>P | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs113994058 CA88840902 VAR_068461 |
269 | R>G | VWM [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
CA88840904 VAR_068462 RCV002471047 rs113994057 RCV001212143 |
269 | R>Q | Vanishing white matter disease VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_068463 CA343821 rs397514646 RCV003221419 |
270 | D>H | Leukoencephalopathy with vanishing white matter 5 VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2726505 rs749469874 RCV001253525 |
271 | D>G | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2726542 RCV001318017 RCV001836297 rs374608159 |
286 | Q>H | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000412998 VAR_012325 rs113994060 CA16042501 RCV001275519 |
299 | R>H | Vanishing white matter disease VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA340477 RCV000006311 rs113994061 RCV003221413 |
309 | V>L | Leukoencephalopathy with vanishing white matter 5 Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs113994062 VAR_068464 CA88842868 |
310 | C>F | VWM [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV003156122 CA88842874 RCV002283510 RCV000735327 VAR_068465 RCV002535429 rs113994063 |
315 | R>C | Vanishing white matter disease Leukodystrophy VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_012326 CA88842873 rs113994063 |
315 | R>G | VWM [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV001070077 RCV000006314 rs113994064 VAR_012327 RCV003221416 CA340481 |
315 | R>H | Leukoencephalopathy with vanishing white matter 5 Vanishing white matter disease VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs113994067 VAR_068466 CA88842886 |
335 | C>R | VWM [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
| VAR_068467 | 335 | C>S | VWM [UniProt] | Yes | UniProt |
|
CA88842889 rs907041830 RCV000722142 |
337 | H>R | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000853417 CA88842892 RCV001593061 rs113994069 VAR_012328 |
339 | R>P | Vanishing white matter disease VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000421811 RCV000853416 rs113994069 VAR_012329 CA2726571 |
339 | R>Q | Vanishing white matter disease VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs113994068 RCV000824637 RCV000853415 CA2726569 VAR_012330 |
339 | R>W | Vanishing white matter disease VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA355385861 rs1560108537 RCV000722109 |
344 | R>* | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000987371 CA355385858 rs1560108537 |
344 | R>G | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_068468 | 376 | N>D | VWM [UniProt] | Yes | UniProt |
|
rs113994074 VAR_012293 CA340475 RCV003221410 |
386 | G>V | Leukoencephalopathy with vanishing white matter 5 VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs886058215 RCV000407514 CA10618185 |
387 | D>H | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs545593935 RCV001093263 RCV001833698 CA2726621 |
403 | A>V | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2726629 rs372497906 RCV000678339 RCV002544688 RCV002532178 |
422 | R>Q | Vanishing white matter disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000679975 rs1560109172 CA355387267 |
423 | V>A | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_012331 CA2726634 rs113994079 |
430 | V>A | VWM [UniProt] | Yes |
ClinGen UniProt ESP ExAC dbSNP gnomAD |
|
RCV001390107 rs113994080 VAR_068469 RCV001004169 CA88843451 |
447 | S>L | Vanishing white matter disease VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA2726705 RCV001277568 rs760027991 |
484 | N>S | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001329782 rs753507995 |
495 | Y>* | Vanishing white matter disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2726718 RCV000348605 RCV002523254 rs777760880 |
510 | L>R | Vanishing white matter disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2726749 RCV001146101 rs773019420 |
531 | Q>R | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001273457 RCV000911550 CA2726752 rs111933069 |
536 | E>D | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2726755 RCV002520114 RCV000407492 rs753878206 |
541 | R>W | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001148891 rs770581569 CA2726788 |
570 | S>F | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002559432 RCV001148892 rs375421867 CA2726789 |
571 | C>F | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs843358 VAR_012332 CA147790 RCV000313724 RCV000080353 RCV000711607 |
587 | I>V | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374115857 RCV001148893 CA2726840 |
627 | A>V | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs28937596 RCV003221409 CA340474 VAR_012294 |
628 | W>R | Leukoencephalopathy with vanishing white matter 5 VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA2726844 RCV002557198 rs138772928 RCV001148894 |
638 | R>H | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000884486 RCV000727993 CA2726851 rs150130018 RCV001825445 |
645 | A>V | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000483052 RCV000763510 CA16617857 rs1064794256 |
649 | I>T | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs113994085 VAR_012333 CA88844167 |
650 | E>K | VWM [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA2726871 RCV000370751 RCV001861214 rs201280946 |
668 | M>V | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1713781736 RCV001199402 |
670 | F>S | Vanishing white matter disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000626852 CA2726916 rs138049080 |
718 | S>P | Leukoencephalopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs755322613 CA2726300 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767998775 CA2726301 |
4 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA355380967 rs1335156482 |
5 | V>I | No |
ClinGen gnomAD |
|
|
CA355380983 rs1402101007 |
6 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA88839975 rs1028842136 |
7 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1397166666 CA355380988 |
7 | A>T | No |
ClinGen gnomAD |
|
|
rs1028842136 CA355380996 |
7 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1218127013 CA355381003 |
8 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1218127013 CA355381000 |
8 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs996228280 CA88839980 |
9 | P>L | No |
ClinGen gnomAD |
|
|
rs1356715009 CA355381032 |
10 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1356715009 CA355381030 |
10 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA355381025 rs1220226200 |
10 | G>R | No |
ClinGen gnomAD |
|
|
rs1254098183 CA355381036 |
11 | V>M | No |
ClinGen gnomAD |
|
|
rs1201012822 CA355381056 |
12 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs967866666 CA88839983 |
12 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs577738220 CA2726304 RCV000711608 |
13 | V>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA2726305 rs560224651 |
15 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs113994041 CA88839990 |
16 | A>D | No |
ClinGen Ensembl |
|
|
rs113994041 CA355381100 |
16 | A>G | No |
ClinGen Ensembl |
|
|
rs1192304635 CA355381116 |
17 | N>K | No |
ClinGen gnomAD |
|
|
rs1423821873 CA355381121 |
18 | K>E | No |
ClinGen gnomAD |
|
|
rs953925212 CA88839992 |
18 | K>N | No |
ClinGen Ensembl |
|
|
CA2726306 rs756880751 |
19 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2726307 rs778450844 |
19 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355381141 rs1466897073 |
20 | S>G | No |
ClinGen gnomAD |
|
|
CA2726310 rs779984946 |
21 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355381153 rs1420303893 |
22 | A>T | No |
ClinGen TOPMed |
|
|
CA2726311 rs369218379 |
22 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485793595 CA355381161 |
23 | G>E | No |
ClinGen TOPMed |
|
|
CA2726313 rs773399834 |
24 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA355381168 rs773399834 |
24 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA355381166 rs1342611046 |
24 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1311342112 CA355381173 |
25 | G>E | No |
ClinGen gnomAD |
|
|
rs1237638280 CA355381180 |
26 | G>V | No |
ClinGen gnomAD |
|
|
CA2726314 rs763178817 |
27 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs950072564 CA88840005 |
27 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759883763 CA2726317 |
30 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355381199 CA2726316 rs771139224 |
30 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726315 rs771139224 |
30 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726318 rs767755812 |
31 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726319 rs767755812 |
31 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355381202 rs1263354783 |
31 | G>R | No |
ClinGen gnomAD |
|
|
rs780539063 CA88840013 |
33 | R>K | No |
ClinGen Ensembl |
|
|
CA355381223 rs1287773961 |
34 | G>E | No |
ClinGen TOPMed |
|
|
CA355381222 rs1287773961 |
34 | G>V | No |
ClinGen TOPMed |
|
|
CA88840015 rs1044684010 |
35 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1434059701 CA355381257 |
39 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1434059701 CA355381256 |
39 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355381268 rs1419696121 |
41 | P>R | No |
ClinGen gnomAD |
|
|
CA355381265 rs1378993789 |
41 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2726320 rs761140018 |
42 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761140018 CA355381270 |
42 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355381278 rs1362588511 |
43 | L>P | No |
ClinGen gnomAD |
|
|
rs756789217 CA2726323 |
47 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs756789217 CA355381299 |
47 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA88840026 rs866262302 |
49 | A>S | No |
ClinGen Ensembl |
|
|
CA355381323 rs1305427208 |
51 | S>C | No |
ClinGen gnomAD |
|
|
CA2726324 rs542690067 |
51 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355381329 rs1286681124 |
52 | F>L | No |
ClinGen gnomAD |
|
|
CA355381347 rs1218749359 |
54 | R>C | No |
ClinGen gnomAD |
|
|
CA88840030 rs113994042 |
54 | R>P | No |
ClinGen Ensembl |
|
|
CA355381351 rs1264438538 |
55 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA355381352 rs1264438538 |
55 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1206713854 CA355381368 |
57 | F>L | No |
ClinGen TOPMed |
|
|
rs1439602258 CA355381362 |
57 | F>L | No |
ClinGen gnomAD |
|
|
rs758129111 CA2726326 |
57 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758129111 CA355381365 |
57 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403605836 CA355381374 |
58 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1403605836 CA355381373 |
58 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355381371 rs1382730855 |
58 | P>S | No |
ClinGen gnomAD |
|
|
CA2726327 rs532061451 |
59 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2726328 rs746844889 |
60 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs768696645 CA2726329 |
61 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs866302677 CA88840039 |
63 | Q>R | No |
ClinGen Ensembl |
|
|
rs1374322344 CA355381408 |
64 | P>A | No |
ClinGen gnomAD |
|
|
rs1374322344 CA355381409 |
64 | P>S | No |
ClinGen gnomAD |
|
|
rs1309806154 CA355381414 |
65 | R>W | No |
ClinGen gnomAD |
|
|
CA355381438 rs1560106443 |
67 | L>F | No |
ClinGen Ensembl |
|
|
rs1275632036 CA355381469 |
72 | N>S | No |
ClinGen gnomAD |
|
|
CA88840230 rs141748678 |
76 | I>M | No |
ClinGen ESP gnomAD |
|
|
CA355381496 rs1210090903 |
77 | D>N | No |
ClinGen gnomAD |
|
|
CA355381513 rs1484239707 |
79 | T>A | No |
ClinGen gnomAD |
|
|
CA2726347 rs751354540 |
84 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1421455868 CA355381563 |
87 | G>D | No |
ClinGen gnomAD |
|
|
CA2726348 rs754854073 |
88 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781211740 CA2726349 |
89 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs548249072 CA2726350 |
89 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1385783854 CA355381590 |
92 | F>I | No |
ClinGen TOPMed |
|
|
rs746008885 CA2726352 |
93 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778822941 CA2726351 |
93 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1713376361 RCV001059688 |
97 | W>* | No |
ClinVar dbSNP |
|
|
rs775719092 CA2726354 |
104 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726355 rs747305325 |
105 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA355381700 rs1257414045 |
107 | L>P | No |
ClinGen gnomAD |
|
|
rs1439713197 CA355381728 |
109 | S>A | No |
ClinGen gnomAD |
|
|
rs1159852095 CA355381732 |
110 | K>Q | No |
ClinGen gnomAD |
|
|
CA88840392 rs755099744 |
112 | C>R | No |
ClinGen Ensembl |
|
|
rs139538250 CA2726375 |
112 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355381764 rs1434577522 |
114 | P>L | No |
ClinGen TOPMed |
|
|
rs372809595 CA2726377 |
115 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2726378 rs766004648 |
118 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs774068091 CA2726379 |
118 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355381794 rs1378306092 |
120 | V>L | No |
ClinGen gnomAD |
|
|
CA355381800 rs1030566286 |
121 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA88840399 rs1030566286 |
121 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2726383 rs140982896 |
124 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355381827 rs1434299289 |
125 | S>L | No |
ClinGen TOPMed |
|
|
rs1577029658 CA355381823 |
125 | S>P | No |
ClinGen Ensembl |
|
|
rs1469616743 CA355381831 |
126 | E>G | No |
ClinGen gnomAD |
|
|
RCV000439475 rs1057521084 CA16604482 |
127 | L>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA88840405 rs865774540 |
128 | Y>C | No |
ClinGen TOPMed |
|
|
CA355381849 rs1419673400 |
129 | R>* | No |
ClinGen gnomAD |
|
|
CA355381851 rs377197747 |
129 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2726384 rs377197747 |
129 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2726385 rs144942694 |
131 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165151044 CA355381863 |
132 | G>R | No |
ClinGen gnomAD |
|
|
rs1419583003 CA355381870 |
133 | D>Y | No |
ClinGen gnomAD |
|
|
rs1464336230 CA355381876 |
134 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1331159996 CA355381884 |
135 | L>F | No |
ClinGen gnomAD |
|
|
CA2726386 rs113994051 |
136 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1316323999 CA355381894 |
137 | D>Y | No |
ClinGen gnomAD |
|
|
rs188135586 CA2726388 |
138 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2726387 rs188135586 |
138 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355381902 rs1393683991 |
138 | V>I | No |
ClinGen gnomAD |
|
|
rs755170852 CA2726389 |
140 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2726391 rs373024822 |
144 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770201391 CA2726392 |
145 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355381945 rs1216563183 |
145 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2726393 rs778087071 |
146 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs749795319 CA2726394 |
147 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs565968028 CA2726395 |
149 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1259157083 CA355381986 |
152 | Y>D | No |
ClinGen gnomAD |
|
|
CA355382034 rs1483006764 |
159 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355382041 rs1374039614 |
160 | N>D | No |
ClinGen gnomAD |
|
|
CA355382043 rs760327970 |
160 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs760327970 CA2726400 |
160 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2726402 rs147923183 |
161 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355382059 rs1467002830 |
163 | R>G | No |
ClinGen TOPMed |
|
|
rs761708632 CA2726403 |
165 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA355382094 rs1338670519 |
168 | H>Y | No |
ClinGen gnomAD |
|
|
CA2726416 rs199920839 |
172 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2726415 rs373147037 |
172 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396988642 CA355382138 |
173 | K>E | No |
ClinGen TOPMed |
|
|
rs1289602056 CA355382140 |
173 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355382167 rs1377682176 |
177 | N>D | No |
ClinGen gnomAD |
|
|
rs774920163 CA2726417 |
177 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA355382184 rs1467729841 |
179 | S>F | No |
ClinGen TOPMed |
|
|
CA88840459 rs1052196673 |
181 | M>T | No |
ClinGen Ensembl |
|
|
rs760372231 CA2726418 |
182 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2726419 rs776464659 |
183 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282408410 CA355382212 |
184 | I>V | No |
ClinGen gnomAD |
|
|
rs141730110 CA2726420 |
187 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355382256 rs1180735828 |
190 | P>H | No |
ClinGen TOPMed |
|
|
CA2726421 rs765123308 |
191 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2726422 rs773141690 |
192 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1486675695 CA355382277 |
193 | P>L | No |
ClinGen gnomAD |
|
|
rs1208399091 CA355382281 |
194 | T>A | No |
ClinGen gnomAD |
|
|
CA2726423 rs536707551 |
194 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355382308 rs1160001761 |
198 | E>D | No |
ClinGen gnomAD |
|
|
CA355382307 rs1439106289 |
198 | E>G | No |
ClinGen gnomAD |
|
|
rs2971410 CA2726425 |
198 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2971410 CA2726426 |
198 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355382321 rs2971409 |
200 | N>S | No |
ClinGen gnomAD |
|
|
VAR_048919 rs2971409 CA88840473 |
200 | N>T | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs1245935865 CA355382329 |
201 | V>G | No |
ClinGen TOPMed |
|
|
CA88840477 rs574694961 |
201 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1342660078 CA355382331 |
202 | V>I | No |
ClinGen TOPMed |
|
|
rs201115066 CA2726430 |
205 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2726432 rs200443670 |
206 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726431 rs200443670 |
206 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355382353 rs1305446265 |
206 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1222693619 CA355382361 |
207 | S>N | No |
ClinGen gnomAD |
|
|
CA355382367 rs1307137552 |
208 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2726433 rs746552122 |
211 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88840486 rs1051462371 |
211 | R>K | No |
ClinGen Ensembl |
|
|
rs768305659 CA2726434 |
211 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA355382394 rs1469134415 |
212 | V>A | No |
ClinGen gnomAD |
|
|
rs377674601 CA2726435 |
219 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA355382453 rs1457766287 |
221 | L>F | No |
ClinGen gnomAD |
|
|
CA2726438 rs773051587 |
222 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2726437 rs151061485 |
222 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576734904 CA2726440 |
223 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576734904 CA2726439 |
223 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2726441 rs140990414 |
223 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355382492 rs1461716828 |
227 | P>L | No |
ClinGen gnomAD |
|
|
CA2726459 rs559654644 |
229 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355382821 rs1170982441 |
229 | S>R | No |
ClinGen gnomAD |
|
|
CA2726460 rs770857433 |
231 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA355382838 rs1261473481 |
231 | F>S | No |
ClinGen gnomAD |
|
|
CA355382868 rs1445160010 |
233 | G>D | No |
ClinGen gnomAD |
|
|
CA2726462 rs760749378 |
234 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726463 rs768604524 |
235 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355382910 rs1390669654 |
236 | D>G | No |
ClinGen TOPMed |
|
|
rs1215525192 CA355382969 |
241 | R>* | No |
ClinGen gnomAD |
|
|
CA2726467 rs750767613 |
242 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA355382975 rs1275650217 |
242 | Y>H | No |
ClinGen gnomAD |
|
|
rs766843541 CA2726469 |
246 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA355383060 rs1191729389 |
248 | H>R | No |
ClinGen gnomAD |
|
|
CA355383106 rs1474414266 |
251 | I>M | No |
ClinGen TOPMed |
|
|
CA2726472 rs780681066 |
254 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2726471 rs755569591 |
254 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs752247359 CA2726473 |
255 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs912621015 CA88840898 |
258 | Q>K | No |
ClinGen Ensembl |
|
|
rs1251452672 CA355383312 |
259 | L>I | No |
ClinGen TOPMed |
|
|
CA355383337 rs1406838169 |
260 | F>L | No |
ClinGen gnomAD |
|
|
rs1229141610 CA355383341 |
261 | T>A | No |
ClinGen TOPMed |
|
|
CA355383392 rs1397282387 |
264 | F>L | No |
ClinGen gnomAD |
|
|
rs113994057 CA88840906 |
269 | R>L | No |
ClinGen gnomAD |
|
|
CA355383464 rs1405367616 |
270 | D>G | No |
ClinGen TOPMed |
|
|
CA2726504 rs397514646 |
270 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2726503 rs397514646 |
270 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1386180650 CA355383495 |
272 | F>C | No |
ClinGen TOPMed |
|
|
CA355383534 rs1334515681 |
274 | R>* | No |
ClinGen gnomAD |
|
|
CA355383535 rs1460067929 |
274 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA355383539 rs759921833 |
275 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs759921833 CA2726508 |
275 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1193954478 CA355383576 |
277 | L>S | No |
ClinGen gnomAD |
|
|
rs1423216469 CA355383583 |
278 | V>E | No |
ClinGen TOPMed |
|
|
rs1249738513 CA355383610 |
279 | N>S | No |
ClinGen gnomAD |
|
|
rs761225930 CA2726511 |
281 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA355384537 rs1326927017 |
282 | I>L | No |
ClinGen gnomAD |
|
|
CA355384606 rs1301192587 |
285 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs912744080 CA88842847 |
287 | I>N | No |
ClinGen Ensembl |
|
|
rs781216603 CA88842851 |
291 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2726544 rs781216603 |
291 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA88842854 rs920044743 |
292 | T>I | No |
ClinGen TOPMed |
|
|
CA88842857 rs962701773 |
297 | G>S | No |
ClinGen TOPMed |
|
|
RCV000414622 CA2726545 rs749256406 |
299 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2726546 rs757368315 |
300 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA355384908 rs757368315 |
300 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1352915033 CA355384934 |
301 | S>C | No |
ClinGen TOPMed |
|
|
CA2726548 rs746083041 |
302 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454753356 CA355384984 |
304 | H>R | No |
ClinGen gnomAD |
|
|
rs772319778 CA2726549 |
304 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431803321 CA355385014 |
305 | M>I | No |
ClinGen TOPMed |
|
|
CA2726550 rs200143780 |
305 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355385008 rs1362244597 |
305 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2726551 rs200143780 |
305 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2726554 rs140378568 |
313 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1577032491 CA355385215 |
314 | I>T | No |
ClinGen Ensembl |
|
|
CA355385207 rs1234382662 |
314 | I>V | No |
ClinGen gnomAD |
|
|
rs776227815 CA88842878 |
316 | R>* | No |
ClinGen Ensembl |
|
|
CA2726556 rs766187010 |
316 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260977608 CA355385264 |
317 | W>R | No |
ClinGen gnomAD |
|
|
rs759376966 CA2726558 |
319 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767295693 CA2726559 |
320 | P>L | No |
ClinGen ExAC |
|
|
CA355385366 rs1252916199 |
321 | L>R | No |
ClinGen gnomAD |
|
|
CA355385380 rs1191243277 |
322 | T>I | No |
ClinGen TOPMed |
|
|
CA88842884 rs113994066 |
323 | P>S | No |
ClinGen Ensembl |
|
|
rs1195556452 CA355385433 |
324 | E>G | No |
ClinGen gnomAD |
|
|
rs377250231 CA2726561 |
325 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355385525 rs1289330669 |
328 | T>I | No |
ClinGen TOPMed |
|
|
CA2726563 rs368501008 |
329 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2726565 rs372589283 |
334 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355385715 rs907041830 |
337 | H>L | No |
ClinGen gnomAD |
|
|
rs113994069 CA88842895 |
339 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88842896 rs1042057631 |
341 | N>S | No |
ClinGen TOPMed |
|
|
CA355385813 rs375486298 |
342 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2726572 rs375486298 |
342 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA88842899 rs113994072 |
343 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA355385828 rs113994072 |
343 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755584111 CA2726573 |
344 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763615769 CA88842902 |
346 | P>S | No |
ClinGen Ensembl |
|
|
CA88842905 rs180945242 |
347 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1477359397 CA355385959 |
350 | L>P | No |
ClinGen TOPMed |
|
|
CA2726576 rs767336100 |
351 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA355385960 rs1284189706 |
351 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355385980 rs143156459 |
352 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560108556 CA355385973 |
352 | H>Y | No |
ClinGen Ensembl |
|
|
rs760637605 CA2726578 |
355 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000415850 CA16043803 rs1057519161 |
359 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA88842917 rs894280657 |
361 | L>P | No |
ClinGen TOPMed |
|
|
rs764040394 CA2726579 |
361 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2726581 rs758477921 |
364 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459231486 CA355386142 |
365 | G>S | No |
ClinGen TOPMed |
|
|
CA355386161 rs1577032677 |
366 | T>I | No |
ClinGen Ensembl |
|
|
rs898502990 CA88842924 |
367 | V>A | No |
ClinGen TOPMed |
|
|
CA88842926 rs987078736 |
368 | I>L | No |
ClinGen Ensembl |
|
|
rs780193167 CA2726582 |
368 | I>T | No |
ClinGen ExAC |
|
|
rs1577032691 CA355386219 |
370 | S>R | No |
ClinGen Ensembl |
|
|
rs751795344 CA355386222 |
371 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs751795344 CA2726583 |
371 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA2726584 rs561494217 |
372 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756598504 CA2726587 |
376 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2726588 rs778459929 |
379 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA355386351 rs1279655494 |
379 | I>V | No |
ClinGen gnomAD |
|
|
CA355386403 rs1230397981 |
382 | G>A | No |
ClinGen gnomAD |
|
|
RCV000585146 rs372909017 CA2726590 |
382 | G>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1271482092 CA355386410 |
383 | C>R | No |
ClinGen gnomAD |
|
|
rs113994073 CA2726591 |
385 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2726613 rs113994075 |
387 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA355386664 rs1208561560 |
392 | D>H | No |
ClinGen TOPMed |
|
|
rs1172545279 CA355386773 |
398 | Q>H | No |
ClinGen gnomAD |
|
|
CA355386775 rs1395281071 |
399 | G>S | No |
ClinGen gnomAD |
|
|
CA2726618 rs776478626 |
401 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA2726619 rs139479760 |
401 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323072944 CA355386839 |
402 | V>A | No |
ClinGen gnomAD |
|
|
CA2726624 rs200602720 |
404 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs200602720 CA2726623 |
404 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA88843329 rs11540444 |
404 | A>S | No |
ClinGen Ensembl |
|
|
rs1222238122 CA355386896 |
406 | A>G | No |
ClinGen gnomAD |
|
|
CA355386938 rs1390518026 |
408 | I>F | No |
ClinGen TOPMed |
|
|
rs1446149838 CA355386955 |
409 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA355386995 rs1577033816 |
410 | Q>H | No |
ClinGen Ensembl |
|
|
rs757787214 CA2726628 |
411 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA355387053 rs1304373115 |
414 | C>S | No |
ClinGen TOPMed |
|
|
rs111941138 CA88843347 |
415 | D>E | No |
ClinGen Ensembl |
|
|
rs1249810494 CA355387100 |
416 | N>D | No |
ClinGen gnomAD |
|
|
rs113994076 CA88843349 |
422 | R>* | No |
ClinGen gnomAD |
|
|
CA2726630 rs113994077 |
425 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs113994078 CA2726631 |
427 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs779673887 CA2726632 |
428 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1401639769 CA355387356 |
428 | R>H | No |
ClinGen gnomAD |
|
|
CA2726633 rs746661830 |
429 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs113994079 CA355387389 |
430 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs965444397 CA88843361 |
430 | V>I | No |
ClinGen TOPMed |
|
|
rs1415124043 CA355387407 |
431 | L>V | No |
ClinGen gnomAD |
|
|
CA355387458 rs1577033902 |
434 | Q>E | No |
ClinGen Ensembl |
|
|
CA355389326 rs1232471844 |
439 | P>Q | No |
ClinGen gnomAD |
|
|
rs769493596 CA355389357 |
441 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333887156 CA355389368 |
441 | I>T | No |
ClinGen TOPMed |
|
|
rs769493596 CA2726657 |
441 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726658 rs777685963 |
442 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324643697 CA355389407 |
443 | L>Q | No |
ClinGen TOPMed |
|
|
rs760843020 CA2726662 |
445 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768960721 CA2726663 |
446 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1064795263 CA16617856 RCV000485403 |
449 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1167870991 CA355389581 |
450 | S>C | No |
ClinGen gnomAD |
|
|
CA2726666 rs765486930 |
452 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2726668 rs750866320 |
453 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1375131270 CA355389627 |
453 | P>L | No |
ClinGen gnomAD |
|
|
rs750866320 CA2726667 |
453 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs766921114 CA2726669 |
454 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754512310 CA2726671 |
456 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs183292258 CA2726673 |
457 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767104131 CA2726672 |
457 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1230044867 CA355389744 |
459 | D>G | No |
ClinGen gnomAD |
|
|
rs377488530 CA2726674 |
459 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355389788 rs1277741137 |
461 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1277741137 CA355389786 |
461 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA355389850 rs1485161887 |
464 | E>K | No |
ClinGen gnomAD |
|
|
RCV000998167 rs571718105 CA2726675 |
466 | S>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1324118595 CA355389956 |
466 | S>T | No |
ClinGen TOPMed |
|
|
rs749125330 CA2726676 |
467 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779026360 CA2726678 |
473 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1391344089 CA355390221 |
473 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1391344089 CA355390209 |
473 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355390244 rs1248678590 |
474 | E>Q | No |
ClinGen gnomAD |
|
|
rs74478773 CA2726680 CA88843501 |
476 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355390444 rs1560109405 |
479 | K>E | No |
ClinGen Ensembl |
|
|
rs758301189 CA88843579 |
483 | Y>C | No |
ClinGen Ensembl |
|
|
rs1269217015 CA355390695 |
485 | P>L | No |
ClinGen gnomAD |
|
|
rs1331686793 CA355390704 |
486 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA88843584 RCV001220962 rs113994081 |
487 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA355390718 rs1212290706 |
488 | V>I | No |
ClinGen gnomAD |
|
|
CA2726706 rs768028590 |
489 | G>V | No |
ClinGen ExAC |
|
|
CA355390748 rs1488840273 |
490 | A>G | No |
ClinGen gnomAD |
|
|
rs113994082 CA2726709 |
495 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA355390878 rs1412381683 |
497 | W>R | No |
ClinGen gnomAD |
|
|
CA88843604 rs1053325057 |
498 | K>E | No |
ClinGen TOPMed |
|
|
rs1458623354 CA355390921 |
499 | A>T | No |
ClinGen gnomAD |
|
|
rs750301307 CA2726713 |
502 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA355390984 rs750301307 |
502 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs765120643 CA2726712 |
502 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355390998 rs1457969966 |
503 | N>Y | No |
ClinGen gnomAD |
|
|
CA355391018 rs1249637868 |
504 | M>T | No |
ClinGen TOPMed |
|
|
CA2726714 rs150035764 |
504 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2726715 rs780144043 |
507 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs939503612 CA88843629 |
507 | E>K | No |
ClinGen Ensembl |
|
|
rs752677373 CA2726717 |
509 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA355391089 rs1288590498 |
509 | E>K | No |
ClinGen gnomAD |
|
|
rs1322891461 CA355391194 |
513 | N>S | No |
ClinGen gnomAD |
|
|
rs771205608 CA2726720 |
515 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA355391228 rs1482121965 |
515 | W>S | No |
ClinGen Ensembl |
|
|
CA355391338 rs1577034740 |
517 | L>F | No |
ClinGen Ensembl |
|
|
CA355391373 rs1183459907 |
518 | K>N | No |
ClinGen gnomAD |
|
|
CA355391385 rs779139887 |
519 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2726740 rs779139887 |
519 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2726742 rs772405331 |
521 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772405331 CA355391426 |
521 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746185518 CA2726741 |
521 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780324607 CA355391506 |
524 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747548401 CA2726744 |
525 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577034776 CA355391529 |
525 | S>R | No |
ClinGen Ensembl |
|
|
CA2726745 rs769101204 |
526 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776148859 CA2726746 |
527 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747664834 CA2726747 |
529 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1553807905 RCV000599452 |
530 | E>missing | No |
ClinVar dbSNP |
|
|
CA355391649 rs1287621203 |
530 | E>K | No |
ClinGen gnomAD |
|
|
rs200225199 CA88843710 |
532 | S>N | No |
ClinGen Ensembl |
|
|
rs766162492 CA2726751 |
533 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs527310219 CA2726750 |
533 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1406828754 CA355391762 |
534 | D>E | No |
ClinGen TOPMed |
|
|
rs1279610356 CA355391805 |
537 | E>K | No |
ClinGen gnomAD |
|
|
rs148734067 CA2726753 |
538 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA88843719 rs192815216 |
541 | R>Q | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs765352143 CA355391919 |
542 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs765352143 CA2726757 |
542 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs953744504 CA88843721 |
542 | G>R | No |
ClinGen gnomAD |
|
|
rs765352143 CA2726758 |
542 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2726759 rs565302516 |
543 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780453961 CA2726761 |
548 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726760 rs780453961 |
548 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88843742 rs372248462 |
549 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs781723072 CA2726782 |
560 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1287967200 CA355392327 |
562 | Q>R | No |
ClinGen gnomAD |
|
|
CA355392361 rs1290134782 |
563 | R>Q | No |
ClinGen gnomAD |
|
|
CA355392355 rs1228837438 |
563 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA2726787 rs748815392 |
567 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355392480 rs1360651642 |
569 | I>V | No |
ClinGen TOPMed |
|
|
CA2726790 rs375421867 |
571 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs62285849 CA88843816 |
572 | D>E | No |
ClinGen Ensembl |
|
|
rs771735548 CA2726791 |
572 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760592628 CA2726793 |
575 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164374877 CA355392706 |
579 | N>S | No |
ClinGen gnomAD |
|
|
CA355392961 rs1232488624 |
584 | A>S | No |
ClinGen gnomAD |
|
|
CA355393012 rs843358 |
587 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1463974637 CA355393150 |
593 | M>T | No |
ClinGen gnomAD |
|
|
CA88843905 rs1024314132 |
595 | V>I | No |
ClinGen TOPMed |
|
|
rs1256777537 CA355393245 |
597 | S>N | No |
ClinGen Ensembl |
|
|
CA355393287 rs1248680116 |
599 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1163253709 CA355393296 |
600 | V>I | No |
ClinGen TOPMed |
|
|
CA2726818 rs767861523 |
602 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355393359 rs1196960014 |
603 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA88843915 rs949511697 |
603 | F>S | No |
ClinGen Ensembl |
|
|
CA355393358 rs1196960014 |
603 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355393395 rs1377344539 |
604 | P>A | No |
ClinGen gnomAD |
|
|
rs1465357603 CA355393448 |
607 | Q>* | No |
ClinGen gnomAD |
|
|
CA355393489 rs1172991865 |
608 | M>V | No |
ClinGen gnomAD |
|
|
CA88843925 rs971400239 |
610 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2726819 rs374710986 |
611 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374710986 CA2726820 |
611 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1049667589 CA88843929 |
613 | D>N | No |
ClinGen Ensembl |
|
|
rs754272609 CA2726822 |
614 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs141051096 CA2726823 |
616 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373491734 CA2726824 |
616 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779711822 CA2726827 |
623 | P>A | No |
ClinGen ExAC |
|
|
CA2726838 rs764552526 |
624 | L>P | No |
ClinGen ExAC |
|
|
rs777112655 CA2726839 |
625 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1488849082 CA355393964 |
627 | A>S | No |
ClinGen gnomAD |
|
|
rs113994084 CA88844128 |
628 | W>* | No |
ClinGen Ensembl |
|
|
rs113994084 RCV001219682 |
628 | W>C | No |
ClinVar dbSNP |
|
|
CA355394012 rs1249963031 |
629 | S>N | No |
ClinGen gnomAD |
|
|
CA88844130 rs145659859 |
630 | P>A | No |
ClinGen ESP |
|
|
CA355394156 rs896253921 |
636 | I>L | No |
ClinGen gnomAD |
|
|
rs896253921 CA88844137 |
636 | I>V | No |
ClinGen gnomAD |
|
|
rs2971415 CA88844140 |
637 | K>E | No |
ClinGen Ensembl |
|
|
CA2726842 rs541227484 |
638 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541227484 CA2726843 |
638 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138772928 CA355394249 |
638 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140884581 CA355394275 |
639 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140884581 CA2726846 RCV000731275 |
639 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780833561 CA2726847 |
639 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs200282586 CA355394340 |
641 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs755934102 CA2726849 |
641 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726853 rs138598221 |
649 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2726856 rs768937004 |
656 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726857 rs776796180 |
657 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355394591 rs1432373763 |
658 | A>V | No |
ClinGen TOPMed |
|
|
rs781092475 CA2726858 |
661 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726859 rs370561398 |
663 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355394642 rs1179988384 |
664 | A>G | No |
ClinGen gnomAD |
|
|
rs1455554211 CA355395396 |
670 | F>L | No |
ClinGen TOPMed |
|
|
rs1319137821 CA355395412 |
671 | Y>C | No |
ClinGen gnomAD |
|
|
rs180808873 CA2726873 |
672 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768722786 CA2726874 |
677 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2726875 rs781500160 |
679 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781500160 CA88844360 |
679 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177577020 CA355395579 |
681 | I>V | No |
ClinGen gnomAD |
|
|
CA355395635 rs1217247908 |
684 | W>* | No |
ClinGen gnomAD |
|
|
CA355395639 rs1158934086 |
684 | W>* | No |
ClinGen TOPMed |
|
|
rs770162376 CA2726877 |
689 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2726876 rs748367036 |
689 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs553170170 CA2726878 |
690 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553170170 CA2726879 |
690 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2726880 rs771437034 |
691 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773779771 CA355395811 |
693 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2726882 rs759115041 |
694 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2726883 rs767025792 |
695 | Q>R | No |
ClinGen ExAC |
|
|
CA355395857 rs1476809145 |
696 | Q>H | No |
ClinGen gnomAD |
|
|
CA2726885 rs374599117 |
698 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs543846542 CA2726886 |
698 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543846542 CA355395874 |
698 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2726887 rs753699713 |
699 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1245915924 CA355395935 |
702 | Q>E | No |
ClinGen TOPMed |
|
|
rs1207840612 CA355395941 |
702 | Q>L | No |
ClinGen TOPMed |
|
|
CA2726914 rs756289697 |
707 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355396137 rs1184579792 |
708 | Q>H | No |
ClinGen gnomAD |
|
|
rs1379114353 CA355396134 |
708 | Q>R | No |
ClinGen TOPMed |
|
|
rs777998094 CA2726915 |
711 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577036826 CA355396262 |
714 | E>G | No |
ClinGen Ensembl |
|
|
CA355396322 rs1164346824 |
716 | E>D | No |
ClinGen gnomAD |
|
|
CA88844479 rs146951976 |
716 | E>K | No |
ClinGen ESP |
1 associated diseases with Q13144
[MIM: 603896]: Leukodystrophy with vanishing white matter (VWM)
A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. {ECO:0000269|PubMed:11704758, ECO:0000269|PubMed:12325082, ECO:0000269|PubMed:12707859, ECO:0000269|PubMed:15776425, ECO:0000269|PubMed:19158808, ECO:0000269|PubMed:21484434}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. {ECO:0000269|PubMed:11704758, ECO:0000269|PubMed:12325082, ECO:0000269|PubMed:12707859, ECO:0000269|PubMed:15776425, ECO:0000269|PubMed:19158808, ECO:0000269|PubMed:21484434}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| eukaryotic translation initiation factor 2B complex | A multisubunit guanine nucleotide exchange factor which catalyzes the exchange of GDP bound to initiation factor eIF2 for GTP, generating active eIF2-GTP. In humans, it is composed of five subunits, alpha, beta, delta, gamma and epsilon. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| translation initiation factor activity | Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide. |
| translation initiation factor binding | Binding to a translation initiation factor, any polypeptide factor involved in the initiation of ribosome-mediated translation. |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| astrocyte development | The process aimed at the progression of an astrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function. |
| astrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an astrocyte. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function. |
| hippocampus development | The progression of the hippocampus over time from its initial formation until its mature state. |
| myelination | The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
| oligodendrocyte development | The process aimed at the progression of an oligodendrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An oligodendrocyte is a type of glial cell involved in myelinating the axons in the central nervous system. |
| ovarian follicle development | The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of translational initiation | Any process that activates or increases the frequency, rate or extent of translational initiation. |
| response to endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| response to glucose | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. |
| response to heat | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
| response to lithium ion | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lithium (Li+) ion stimulus. |
| response to peptide hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
| translational initiation | The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPVVAPPG | VVVSRANKRS | GAGPGGSGGG | GARGAEEEPP | PPLQAVLVAD | SFDRRFFPIS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KDQPRVLLPL | ANVALIDYTL | EFLTATGVQE | TFVFCCWKAA | QIKEHLLKSK | WCRPTSLNVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RIITSELYRS | LGDVLRDVDA | KALVRSDFLL | VYGDVISNIN | ITRALEEHRL | RRKLEKNVSV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MTMIFKESSP | SHPTRCHEDN | VVVAVDSTTN | RVLHFQKTQG | LRRFAFPLSL | FQGSSDGVEV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RYDLLDCHIS | ICSPQVAQLF | TDNFDYQTRD | DFVRGLLVNE | EILGNQIHMH | VTAKEYGARV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SNLHMYSAVC | ADVIRRWVYP | LTPEANFTDS | TTQSCTHSRH | NIYRGPEVSL | GHGSILEENV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLGSGTVIGS | NCFITNSVIG | PGCHIGDNVV | LDQTYLWQGV | RVAAGAQIHQ | SLLCDNAEVK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ERVTLKPRSV | LTSQVVVGPN | ITLPEGSVIS | LHPPDAEEDE | DDGEFSDDSG | ADQEKDKVKM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KGYNPAEVGA | AGKGYLWKAA | GMNMEEEEEL | QQNLWGLKIN | MEEESESESE | QSMDSEEPDS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RGGSPQMDDI | KVFQNEVLGT | LQRGKEENIS | CDNLVLEINS | LKYAYNISLK | EVMQVLSHVV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LEFPLQQMDS | PLDSSRYCAL | LLPLLKAWSP | VFRNYIKRAA | DHLEALAAIE | DFFLEHEALG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ISMAKVLMAF | YQLEILAEET | ILSWFSQRDT | TDKGQQLRKN | QQLQRFIQWL | KEAEEESSED |
| D |