Q9UI10
PR
Gene name |
EIF2B4 (EIF2BD) |
Protein name |
Translation initiation factor eIF-2B subunit delta |
Names |
eIF-2B GDP-GTP exchange factor subunit delta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8890 |
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
23 structures for Q9UI10
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6CAJ | EM | 280 A | E/F | 1-523 | PDB |
| 6EZO | EM | 410 A | G/H | 1-523 | PDB |
| 6K71 | EM | 430 A | G/H | 1-523 | PDB |
| 6K72 | EM | 460 A | G/H | 1-523 | PDB |
| 6O81 | EM | 321 A | E/F | 1-523 | PDB |
| 6O85 | EM | 303 A | E/F | 1-523 | PDB |
| 6O9Z | EM | 303 A | E/F | 1-523 | PDB |
| 7D43 | EM | 430 A | G/H | 1-523 | PDB |
| 7D44 | EM | 400 A | G/H | 1-523 | PDB |
| 7D45 | EM | 380 A | G/H | 1-523 | PDB |
| 7D46 | EM | 400 A | G/H | 1-523 | PDB |
| 7F64 | EM | 242 A | G/H | 1-523 | PDB |
| 7F66 | EM | 276 A | G/H | 1-523 | PDB |
| 7F67 | EM | 359 A | G/H | 1-523 | PDB |
| 7KMF | EM | 291 A | E/F | 1-523 | PDB |
| 7L70 | EM | 280 A | E/F | 1-523 | PDB |
| 7L7G | EM | 300 A | E/F | 1-523 | PDB |
| 7RLO | EM | 260 A | E/F | 1-523 | PDB |
| 7TRJ | EM | 280 A | E/F | 1-523 | PDB |
| 7VLK | EM | 227 A | G/H | 1-523 | PDB |
| 8TQO | EM | 310 A | E | 1-523 | PDB |
| 8TQZ | EM | 290 A | E/F | 1-523 | PDB |
| AF-Q9UI10-F1 | Predicted | AlphaFoldDB |
413 variants for Q9UI10
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001140002 CA1577037 rs754958652 |
21 | P>S | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1682186320 RCV001328915 |
30 | E>D | Vanishing white matter disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886055905 CA10615134 RCV000260246 |
32 | T>N | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772427644 RCV001859184 RCV001196440 |
49 | K>missing | Vanishing white matter disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000355150 CA10615133 rs886055904 |
53 | E>G | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001137761 rs763729559 CA44514176 |
80 | S>L | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs758233858 RCV001336301 CA1576947 |
99 | E>K | Vanishing white matter disease Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1576943 RCV000403918 rs753288781 |
104 | R>H | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1592084 rs774864445 CA1576937 COSM1019656 RCV001137760 RCV001300135 RCV002556934 |
112 | R>Q | Vanishing white matter disease Variant assessed as Somatic; 0.0 impact. endometrium Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001198435 RCV002549961 RCV000997100 rs769575268 |
133 | T>K | Vanishing white matter disease Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001198840 rs1682104932 |
139 | S>missing | Vanishing white matter disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1576896 RCV001858934 rs368243788 RCV001142531 |
143 | R>H | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770591078 CA1576887 RCV001142530 |
164 | R>H | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000302824 rs886055902 CA10615131 |
172 | D>A | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001256671 rs1682025430 |
184 | P>L | Vanishing white matter disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002525826 rs113994028 VAR_068455 RCV000985031 RCV000486128 CA1576829 |
209 | R>Q | Vanishing white matter disease Inborn genetic diseases VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003221396 CA340164 rs113994027 VAR_015405 |
228 | A>V | Leukoencephalopathy with vanishing white matter 4 VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs151290164 RCV000401908 CA1576802 |
242 | T>A | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3962734 COSM3962735 RCV001782965 CA1576800 RCV000482195 rs113994030 |
243 | P>L | lung Vanishing white matter disease [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001140652 CA1576768 rs143926434 RCV002070685 |
264 | T>N | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
VAR_068456 rs113994031 CA44512352 |
269 | L>R | VWM [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs182331835 RCV000348019 CA1576763 |
271 | A>V | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001281377 rs1681946262 |
289 | S>I | Vanishing white matter disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1681946262 RCV001260956 |
289 | S>N | Vanishing white matter disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000288347 VAR_015406 CA152722 rs78599355 RCV000116972 RCV000711604 |
306 | R>G | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000883611 CA1576698 rs560532019 RCV000407563 |
313 | V>A | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM1592086 rs200954953 CA1576691 COSM1019654 RCV000351370 RCV002523130 RCV002263608 |
321 | R>C | Vanishing white matter disease endometrium Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_015407 RCV000004333 RCV003221393 CA340161 rs113994033 |
357 | R>Q | Leukoencephalopathy with vanishing white matter 4 Vanishing white matter disease VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003221394 VAR_015408 RCV001650827 rs113994035 CA340162 |
374 | R>C | Leukoencephalopathy with vanishing white matter 4 VWM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
rs745579285 RCV001140651 CA1576650 |
377 | V>L | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886055901 RCV000386106 CA10614900 |
379 | A>V | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000331589 RCV002519965 rs886055900 CA10614899 |
437 | C>F | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_016843 CA116652 RCV003221397 rs113994038 |
465 | C>R | Leukoencephalopathy with vanishing white matter 4 VWM; with ovarian failure [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001856793 CA1576578 RCV001139871 rs751555693 |
467 | R>Q | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000765662 RCV000339634 CA1576579 rs138249238 |
467 | R>W | Vanishing white matter disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA116653 RCV003221398 VAR_016844 rs113994040 |
489 | Y>H | Leukoencephalopathy with vanishing white matter 4 VWM; with ovarian failure [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
COSM3728037 rs749942048 COSM3728038 CA1576559 RCV000778612 |
502 | T>M | Vanishing white matter disease haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346204516 rs1462370218 |
2 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA346204514 rs1462370218 |
2 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346204507 rs1389803799 |
2 | A>V | No |
ClinGen TOPMed |
|
|
CA346204500 rs1166427846 |
3 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs182127717 CA346204504 |
3 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs182127717 CA44515638 |
3 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA346204498 rs1166427846 |
3 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs371924054 CA1577078 |
4 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA44515637 rs371924054 |
4 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346204481 rs1240908854 |
5 | A>D | No |
ClinGen TOPMed |
|
|
CA346204480 rs1240908854 |
5 | A>G | No |
ClinGen TOPMed |
|
|
rs1188573793 CA346204483 |
5 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA44515618 rs993483522 |
6 | V>L | No |
ClinGen Ensembl |
|
|
CA1577075 rs764607200 |
7 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1577076 rs764607200 |
7 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368043444 CA1577073 |
9 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542570644 CA44515593 |
10 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA346204427 rs1341955613 |
10 | E>G | No |
ClinGen gnomAD |
|
|
CA346204432 rs542570644 |
10 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs542570644 CA44515592 |
10 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1025783486 CA44515107 |
11 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA346204416 rs1449857863 |
11 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA44515105 rs868834642 |
12 | S>* | No |
ClinGen TOPMed |
|
|
rs868834642 CA346203932 |
12 | S>L | No |
ClinGen TOPMed |
|
|
CA1577040 rs756513459 |
13 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA346203924 rs1272220444 |
13 | G>V | No |
ClinGen TOPMed |
|
|
CA346203871 rs1420424093 |
15 | G>A | No |
ClinGen gnomAD |
|
|
CA346203894 rs1156231993 |
15 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1318829591 CA346203866 |
16 | M>V | No |
ClinGen gnomAD |
|
|
CA1577038 RCV000916718 rs190259653 |
17 | K>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1336813086 CA346203833 |
18 | A>T | No |
ClinGen TOPMed |
|
|
CA44515071 rs866671429 |
19 | E>D | No |
ClinGen Ensembl |
|
|
rs766637381 CA1577035 |
22 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447142726 CA346203757 |
22 | P>S | No |
ClinGen TOPMed |
|
|
CA44515055 rs769672829 |
23 | G>R | No |
ClinGen Ensembl |
|
|
CA346203677 rs1451756680 |
25 | G>R | No |
ClinGen gnomAD |
|
|
CA1577032 rs137963149 |
25 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752068283 CA1577019 |
26 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs747925994 CA44514818 |
26 | A>P | No |
ClinGen TOPMed |
|
|
CA346203599 rs752068283 |
26 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1577018 rs766541364 |
27 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA346203561 rs1162316920 |
28 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780113294 CA1577014 |
30 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1577013 rs760328185 |
31 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 33 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1577012 rs775357878 |
34 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346203406 rs759503915 |
37 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759503915 CA1577010 |
37 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44514676 rs144798741 |
38 | Q>E | No |
ClinGen ESP TOPMed |
|
|
rs1167017340 CA346203367 |
39 | L>F | No |
ClinGen TOPMed |
|
|
rs1267436130 CA346203353 |
40 | R>Q | No |
ClinGen gnomAD |
|
|
rs1219720070 CA346203328 |
42 | E>K | No |
ClinGen gnomAD |
|
|
CA1577009 rs774312870 |
42 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA346203305 rs1268783648 |
43 | K>E | No |
ClinGen gnomAD |
|
|
rs770388291 CA346203289 COSM461040 COSM1134544 |
43 | K>N | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA346203282 rs1452502278 |
44 | K>E | No |
ClinGen TOPMed |
|
|
rs748820541 CA1577007 |
45 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368905502 CA1577006 |
47 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370250332 CA346203189 |
49 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA346203153 rs1460534815 |
52 | E>K | No |
ClinGen gnomAD |
|
|
rs781612114 CA1577001 |
55 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs756565356 CA44514593 COSM3839284 COSM3839283 |
55 | G>R | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs747515908 CA1576999 |
56 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346203060 rs1434676827 |
57 | E>Q | No |
ClinGen gnomAD |
|
|
CA346203033 rs1264917844 |
58 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1264917844 CA346203036 |
58 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs139521128 CA1576997 |
61 | G>V | No |
ClinGen ESP ExAC |
|
|
rs750540614 CA1576996 |
62 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA346202965 rs1210636133 |
63 | A>P | No |
ClinGen gnomAD |
|
|
CA1576995 rs779208304 |
63 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44514520 rs906366986 |
64 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1576993 rs754066143 |
65 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs200290985 CA1576992 |
66 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751451207 CA346202874 |
68 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759281615 CA1576991 |
68 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs766318671 CA1576989 |
69 | C>R | No |
ClinGen ExAC |
|
|
rs764777030 CA1576964 |
74 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346202636 rs1256002593 |
78 | P>R | No |
ClinGen gnomAD |
|
|
CA44514188 rs991629263 |
79 | E>V | No |
ClinGen Ensembl |
|
|
CA1576962 rs776294002 |
80 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194458669 CA346202578 |
81 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1576961 rs371589780 |
83 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346202532 rs978740472 |
84 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA346202507 rs1284462187 |
85 | G>D | No |
ClinGen gnomAD |
|
|
CA346202494 rs530363694 |
86 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1576958 rs530363694 |
86 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774760656 CA1576956 |
88 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146262118 CA1576954 |
88 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1576957 rs774760656 |
88 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346202431 rs1171709148 |
92 | P>S | No |
ClinGen TOPMed |
|
|
VAR_048918 CA44514125 rs34155621 |
93 | A>V | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA44514111 rs756288383 |
95 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1473812502 CA346202389 |
95 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1576950 rs756288383 |
95 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA346202336 rs1443294556 |
98 | A>S | No |
ClinGen TOPMed |
|
|
CA1576946 RCV000224152 rs368061442 |
101 | R>L | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
CA1576945 rs368061442 |
101 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346202267 rs1274985917 |
102 | A>T | No |
ClinGen TOPMed |
|
|
rs1437660916 CA346202233 |
104 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA346202216 rs1213010419 |
105 | R>Q | No |
ClinGen TOPMed |
|
|
CA346202200 rs1384380359 |
106 | A>V | No |
ClinGen gnomAD |
|
|
CA346202139 rs1273198828 |
109 | E>A | No |
ClinGen TOPMed |
|
|
rs775331954 CA1576940 |
111 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1576941 rs760388895 |
111 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760002611 CA1576938 |
112 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576936 rs771349222 |
115 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs749874646 CA1576935 |
116 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA346202015 rs1164840513 |
117 | A>E | No |
ClinGen TOPMed |
|
|
CA346201953 rs1433685191 |
121 | E>G | No |
ClinGen gnomAD |
|
|
CA346201960 rs1392575511 |
121 | E>Q | No |
ClinGen gnomAD |
|
|
rs1572610537 CA346201867 |
125 | P>L | No |
ClinGen Ensembl |
|
|
rs374686395 CA1576931 |
127 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146732803 CA1576930 |
129 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149520370 CA1576929 |
129 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346201798 rs1353338846 |
130 | S>C | No |
ClinGen TOPMed |
|
|
CA1576928 rs371253140 |
131 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1232603636 CA346201721 |
134 | A>T | No |
ClinGen TOPMed |
|
|
CA1576927 rs778839851 |
134 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs757134177 CA1576926 |
136 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1208778283 CA346201658 |
137 | T>A | No |
ClinGen gnomAD |
|
|
rs753868838 CA1576924 |
137 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346201628 rs1223219978 |
138 | P>L | No |
ClinGen gnomAD |
|
|
rs763488648 CA1576923 |
138 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA44513989 rs1027298754 |
139 | S>T | No |
ClinGen gnomAD |
|
|
rs1249927558 CA346201443 |
141 | V>A | No |
ClinGen gnomAD |
|
|
rs754665816 CA1576898 |
143 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576897 rs368243788 |
143 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1185397024 CA346201428 |
144 | L>F | No |
ClinGen gnomAD |
|
|
rs750850634 CA1576894 |
145 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275009137 CA346201401 |
148 | P>S | No |
ClinGen gnomAD |
|
|
CA44513623 rs569664227 |
152 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs776685186 CA1576891 |
153 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576890 rs768779136 |
156 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA346201351 rs768779136 |
156 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA346201329 rs1467062731 |
159 | V>A | No |
ClinGen TOPMed |
|
|
rs1214039849 CA346201334 |
159 | V>I | No |
ClinGen gnomAD |
|
|
rs1380057781 CA346201318 |
161 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 161 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44513606 rs866357253 |
161 | K>R | No |
ClinGen Ensembl |
|
|
CA346201279 rs775819795 |
164 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576888 rs775819795 |
164 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346201270 rs1376983887 |
165 | Q>E | No |
ClinGen gnomAD |
|
|
rs746547024 CA1576863 |
169 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746547024 CA1576864 |
169 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA346201120 rs1572607363 |
170 | R>* | No |
ClinGen Ensembl |
|
|
rs1439504604 CA346201115 |
170 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1576862 rs779502336 |
173 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA44513328 rs779502336 |
173 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1451468005 CA346201024 |
175 | S>C | No |
ClinGen gnomAD |
|
|
CA44513314 rs920428422 |
175 | S>P | No |
ClinGen Ensembl |
|
|
rs745575196 CA1576860 |
178 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA346200978 rs1176474610 |
178 | S>N | No |
ClinGen gnomAD |
|
|
rs565245777 CA1576859 |
179 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346200933 rs1397100071 |
181 | S>C | No |
ClinGen gnomAD |
|
|
rs1262442910 CA346200894 |
185 | Q>E | No |
ClinGen gnomAD |
|
|
CA346200833 rs1256574955 |
187 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA346200811 rs1260694265 |
188 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346200817 rs1485154874 |
188 | R>T | No |
ClinGen gnomAD |
|
|
RCV001349231 rs375458330 CA1576857 |
189 | Q>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA346200792 rs1350575608 |
190 | N>H | No |
ClinGen gnomAD |
|
|
rs756090304 CA1576856 |
190 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA346200780 rs1300799614 |
190 | N>S | No |
ClinGen gnomAD |
|
|
rs1238793897 CA346200768 |
191 | S>A | No |
ClinGen gnomAD |
|
|
rs772991139 CA44513242 |
191 | S>F | No |
ClinGen Ensembl |
|
|
CA346200722 rs1297038949 |
194 | Q>R | No |
ClinGen gnomAD |
|
|
rs752818834 CA1576854 |
195 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346200683 rs1418062275 |
196 | M>I | No |
ClinGen TOPMed |
|
|
CA1576853 rs767553031 |
196 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs200307171 CA44512970 |
198 | I>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs766717475 CA1576832 |
198 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1572606707 CA346200597 |
198 | I>T | No |
ClinGen Ensembl |
|
|
CA346200513 rs1187644050 |
203 | I>T | No |
ClinGen gnomAD |
|
|
rs1438809925 CA346200447 |
207 | M>T | No |
ClinGen gnomAD |
|
|
CA44512958 rs113994029 |
209 | R>* | No |
ClinGen gnomAD |
|
|
CA346200406 rs113994028 |
209 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346200400 rs1477744910 |
210 | L>H | No |
ClinGen TOPMed |
|
|
CA1576828 rs760641987 |
210 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1332546889 CA346200390 |
211 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs560111940 CA1576826 |
213 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773935313 CA1576824 |
214 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs773935313 CA1576825 |
214 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1362267941 CA346200315 |
216 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346200304 rs1326612423 |
217 | G>S | No |
ClinGen gnomAD |
|
|
CA1576821 rs778177199 |
219 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164907064 CA346200219 |
223 | N>S | No |
ClinGen gnomAD |
|
|
CA346200211 RCV000722396 rs1558636529 |
224 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs757694836 CA44512913 |
225 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA44512918 rs907448099 |
225 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1572606459 CA346200201 |
226 | C>G | No |
ClinGen Ensembl |
|
|
rs748646310 CA1576819 |
228 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346200117 rs1332104737 |
231 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA346200116 rs1272467526 |
231 | R>H | No |
ClinGen gnomAD |
|
|
CA346200109 rs1272467526 |
231 | R>L | No |
ClinGen gnomAD |
|
|
rs755047066 CA1576817 |
234 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346200052 rs1352768151 |
234 | Q>H | No |
ClinGen gnomAD |
|
|
CA346200036 rs1277508793 |
235 | Q>E | No |
ClinGen gnomAD |
|
|
CA346199922 rs1400485315 |
236 | V>A | No |
ClinGen gnomAD |
|
|
CA346199875 rs1339530461 |
239 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA44512730 rs949001155 |
241 | T>A | No |
ClinGen TOPMed |
|
|
CA44512711 rs1049706409 |
242 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs151290164 CA1576803 |
242 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs931924982 CA44512702 |
243 | P>T | No |
ClinGen Ensembl |
|
|
rs1240294780 CA346199767 |
244 | P>L | No |
ClinGen gnomAD |
|
|
CA346199750 rs1314802247 |
245 | N>K | No |
ClinGen TOPMed |
|
|
rs747580846 CA1576798 |
248 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA346199694 rs1256981697 |
249 | S>F | No |
ClinGen TOPMed |
|
|
CA346199697 rs1256981697 |
249 | S>Y | No |
ClinGen TOPMed |
|
|
rs1347693309 CA346199669 |
251 | D>N | No |
ClinGen TOPMed |
|
|
rs758593908 CA1576796 |
253 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs940528953 CA44512668 |
253 | V>M | No |
ClinGen TOPMed |
|
|
rs1257504322 CA346199620 |
255 | K>E | No |
ClinGen TOPMed |
|
|
rs750621545 CA1576795 |
256 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs141722828 CA1576794 |
258 | P>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1399991355 CA346199549 |
260 | M>T | No |
ClinGen gnomAD |
|
|
rs752440296 CA1576792 |
260 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA44512383 rs889851700 |
267 | R>C | No |
ClinGen gnomAD |
|
|
CA44512376 rs957399650 |
268 | P>R | No |
ClinGen TOPMed |
|
|
rs1558635897 CA346199367 |
268 | P>T | No |
ClinGen Ensembl |
|
|
rs113994031 CA1576765 |
269 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA44512323 rs1028342862 |
271 | A>S | No |
ClinGen Ensembl |
|
|
CA346199285 rs1193624166 |
274 | H>Y | No |
ClinGen gnomAD |
|
|
CA346199254 rs149782530 CA1576761 |
275 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1308215203 CA346199249 |
276 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774281750 CA1576758 |
277 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs774281750 CA1576759 |
277 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1402389843 CA346199207 |
278 | K>R | No |
ClinGen TOPMed |
|
|
CA1576756 rs749471127 |
280 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs777992006 CA1576755 |
281 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA346199041 rs1323293680 |
286 | S>I | No |
ClinGen gnomAD |
|
|
rs754707878 CA1576754 |
288 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576753 rs577147537 COSM1193374 COSM1193373 |
289 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA1576751 rs190848009 |
290 | S>F | No |
ClinGen 1000Genomes |
|
|
rs368372393 CA44512243 |
291 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758251555 CA346198947 |
292 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758251555 CA1576749 |
292 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576750 rs779887864 |
292 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576748 rs763088766 |
294 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454866423 CA346198895 |
295 | E>G | No |
ClinGen gnomAD |
|
|
rs1199587503 CA346198783 |
296 | A>V | No |
ClinGen gnomAD |
|
|
CA346198774 rs1339639031 |
297 | K>R | No |
ClinGen gnomAD |
|
|
CA346198735 rs1558635406 |
299 | E>G | No |
ClinGen Ensembl |
|
|
CA1576708 rs755715511 |
301 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781536399 CA1576707 |
301 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576706 rs780909643 |
302 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1576705 rs377339042 |
303 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395719275 CA346198637 |
306 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs78599355 CA1576704 |
306 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1397443782 CA346198632 |
307 | Y>H | No |
ClinGen gnomAD |
|
|
CA1576702 rs750965977 |
309 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1576699 rs776661452 |
312 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1576696 rs184607650 |
316 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770898806 CA1576695 |
317 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244340562 CA346198493 |
318 | A>E | No |
ClinGen gnomAD |
|
|
CA346198491 rs1244340562 |
318 | A>V | No |
ClinGen gnomAD |
|
|
CA1576692 rs769371305 |
319 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354144369 CA346198467 |
321 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1227369447 CA346198457 |
322 | F>Y | No |
ClinGen TOPMed |
|
|
rs1283423661 CA346198443 |
323 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1283423661 CA346198441 |
323 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1336603428 CA346198436 |
324 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs746687079 CA1576688 |
327 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754642030 CA1576689 |
327 | I>T | No |
ClinGen ExAC |
|
|
CA346198393 rs1558635200 |
328 | S>R | No |
ClinGen Ensembl |
|
|
CA346198380 rs1488213828 |
329 | N>D | No |
ClinGen TOPMed |
|
|
CA1576672 rs145468921 |
341 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346198217 rs768087185 |
342 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768087185 CA346198216 CA1576670 |
342 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346198198 rs1443314697 |
344 | R>* | No |
ClinGen gnomAD |
|
|
rs141025043 CA44511545 |
344 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs1157211474 CA346198182 |
345 | I>M | No |
ClinGen gnomAD |
|
|
CA1576669 rs746628836 |
350 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA346198133 rs1418755120 |
350 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 350 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779707712 CA1576668 |
351 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779707712 CA44511533 |
351 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576667 rs778375725 |
353 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368168999 CA1576664 |
354 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779319688 CA1576665 |
354 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1448645756 CA346198080 |
355 | R>Q | No |
ClinGen gnomAD |
|
|
rs950114490 CA44511508 |
355 | R>W | No |
ClinGen TOPMed |
|
|
CA346198071 rs1572603676 |
356 | F>V | No |
ClinGen Ensembl |
|
|
CA1576662 rs113994032 |
357 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1576661 CA1576660 rs767857138 |
358 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767857138 CA346198055 |
358 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375697618 CA1576659 |
361 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1576658 rs201216936 |
363 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA44511492 rs917281842 |
363 | S>R | No |
ClinGen TOPMed |
|
|
CA1576657 rs201216936 |
363 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs113994034 CA1576656 |
364 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463646100 CA346197972 |
365 | P>L | No |
ClinGen TOPMed |
|
|
CA1576654 rs768160292 |
368 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760119905 CA1576653 |
371 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346197905 rs1572603541 |
372 | T>A | No |
ClinGen Ensembl |
|
|
CA44511425 rs371946487 |
374 | R>H | No |
ClinGen ESP TOPMed |
|
|
rs771710835 CA1576651 |
375 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA346197859 rs1192691914 |
378 | H>Y | No |
ClinGen gnomAD |
|
|
CA1576648 rs771240893 |
380 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA346197848 rs1202161925 |
380 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1576645 rs756150677 |
389 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558634761 CA346197515 |
389 | P>L | No |
ClinGen Ensembl |
|
|
rs113994036 CA44511340 |
391 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113994036 CA1576643 |
391 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113994036 CA1576644 |
391 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346197489 rs1276795326 |
392 | S>F | No |
ClinGen gnomAD |
|
|
CA1576642 rs755225054 |
394 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1576620 rs755135093 |
399 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1576619 rs139134121 |
400 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1576618 rs780149885 |
401 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753573267 CA44509723 |
406 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346197296 rs1178064509 |
407 | A>G | No |
ClinGen gnomAD |
|
|
rs1406758215 CA346197279 |
409 | L>S | No |
ClinGen gnomAD |
|
|
rs764012305 CA1576615 |
410 | A>G | No |
ClinGen ExAC |
|
|
CA346197257 rs1459780113 |
412 | G>R | No |
ClinGen TOPMed |
|
|
rs759071387 CA1576612 |
417 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346197199 rs1267699897 |
418 | V>A | No |
ClinGen gnomAD |
|
|
rs1285385477 CA346197173 |
422 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 422 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369616643 CA1576610 |
426 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377146994 CA1576609 |
428 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 431 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1576606 rs748621364 |
432 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1457343276 CA346197072 |
432 | V>L | No |
ClinGen gnomAD |
|
|
COSM1668796 CA346197027 rs886055900 COSM1668795 |
437 | C>S | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 439 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333927034 CA767375689 |
441 | Y>* | No |
ClinGen TOPMed |
|
|
COSM1142565 COSM574725 rs1433783398 CA346196982 |
441 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs372970925 CA1576604 |
441 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1576602 rs759669141 |
446 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767391188 COSM1251067 CA346196922 COSM1251066 |
446 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA44509584 rs767391188 |
446 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746154598 CA1576600 |
447 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA346196898 rs1219202079 |
448 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 451 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755934909 CA1576598 |
454 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1558632613 RCV000722988 CA346196846 |
455 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA44509333 rs768318439 |
463 | L>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 466 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346196753 rs751555693 |
467 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779387577 CA1576577 |
468 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA44509298 rs916246014 |
470 | H>R | No |
ClinGen Ensembl |
|
|
rs749983780 CA44509252 |
471 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576575 rs749983780 |
471 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576576 rs757943510 |
471 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346196725 rs1457766329 |
472 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA346196723 rs1457766329 |
472 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761628155 CA1576573 |
474 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs754244635 CA1576572 |
477 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293715227 CA346196676 |
479 | H>R | No |
ClinGen gnomAD |
|
|
CA44509233 rs991103916 |
480 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1576571 rs145784671 |
480 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs991103916 CA44509227 |
480 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1576570 rs761059364 |
481 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346196665 rs761059364 |
481 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576569 rs776097463 |
483 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA44509202 rs113994039 |
483 | R>W | No |
ClinGen gnomAD |
|
|
CA346196638 rs1167111337 |
486 | N>S | No |
ClinGen TOPMed |
|
|
CA346196627 rs1390030753 |
488 | V>I | No |
ClinGen TOPMed |
|
|
CA1576566 rs771128051 |
491 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs768526271 CA1576563 |
493 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1576565 rs772479767 |
493 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772479767 CA1576564 |
493 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346196592 rs1439905855 |
494 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1439905855 CA346196594 |
494 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346196586 rs1239514852 |
495 | E>A | No |
ClinGen gnomAD |
|
|
CA346196585 rs1239514852 |
495 | E>G | No |
ClinGen gnomAD |
|
|
rs780050233 CA1576561 |
495 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757777425 CA1576560 |
497 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346196564 rs1324407403 |
498 | D>E | No |
ClinGen TOPMed |
|
|
CA346196570 rs1457280952 |
498 | D>N | No |
ClinGen gnomAD |
|
|
rs1264625013 CA346196516 |
505 | G>E | No |
ClinGen gnomAD |
|
|
CA346196432 rs1572598451 |
513 | P>S | No |
ClinGen Ensembl |
|
|
CA1576554 rs756524864 |
517 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1576552 rs768076303 |
519 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1576550 rs774390579 |
520 | S>N | No |
ClinGen ExAC |
|
|
rs1558632062 CA346196345 |
521 | S>R | No |
ClinGen Ensembl |
|
|
CA44509035 rs866717709 |
523 | Q>* | No |
ClinGen Ensembl |
1 associated diseases with Q9UI10
[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:11835386, ECO:0000269|PubMed:12707859, ECO:0000269|PubMed:15776425}. 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:11835386, ECO:0000269|PubMed:12707859, ECO:0000269|PubMed:15776425}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9UI10
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UI10 | |||
3 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| regulation of catalytic activity | Any process that modulates the activity of an enzyme. |
| regulation of translation | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| 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 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. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3T058 | EIF2B4 | Translation initiation factor eIF-2B subunit delta | Bos taurus (Bovine) | PR |
| Q61749 | Eif2b4 | Translation initiation factor eIF-2B subunit delta | Mus musculus (Mouse) | PR |
| Q63186 | Eif2b4 | Translation initiation factor eIF-2B subunit delta | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAVAVAVRE | DSGSGMKAEL | PPGPGAVGRE | MTKEEKLQLR | KEKKQQKKKR | KEEKGAEPET |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GSAVSAAQCQ | VGPTRELPES | GIQLGTPREK | VPAGRSKAEL | RAERRAKQEA | ERALKQARKG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EQGGPPPKAS | PSTAGETPSG | VKRLPEYPQV | DDLLLRRLVK | KPERQQVPTR | KDYGSKVSLF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SHLPQYSRQN | SLTQFMSIPS | SVIHPAMVRL | GLQYSQGLVS | GSNARCIALL | RALQQVIQDY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TTPPNEELSR | DLVNKLKPYM | SFLTQCRPLS | ASMHNAIKFL | NKEITSVGSS | KREEEAKSEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RAAIDRYVQE | KIVLAAQAIS | RFAYQKISNG | DVILVYGCSS | LVSRILQEAW | TEGRRFRVVV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VDSRPWLEGR | HTLRSLVHAG | VPASYLLIPA | ASYVLPEVSK | VLLGAHALLA | NGSVMSRVGT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AQLALVARAH | NVPVLVCCET | YKFCERVQTD | AFVSNELDDP | DDLQCKRGEH | VALANWQNHA |
| 490 | 500 | 510 | 520 | ||
| SLRLLNLVYD | VTPPELVDLV | ITELGMIPCS | SVPVVLRVKS | SDQ |