P17066
SS
Gene name |
HSPA6 (HSP70B') |
Protein name |
Heat shock 70 kDa protein 6 |
Names |
Heat shock 70 kDa protein B' , Heat shock protein family A member 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3310 |
EC number |
|
Protein Class |
|
Descriptions
HSPA8 (or hsc70) is a heat shock cognate protein involved in many cellular processes. During recovery from stress, HSPA8, initially accumulating in the nucleoplasm for folding/refolding of proteins, transiently concentrates in nucleoli for nucleolar morphology and function restoration. The inhibitory region is positioned at one of the three domains of HSPA8 protein, which is the N-terminal ATPase domain, specifically in residues 263-287 of domain IIB. Under normal growth conditions, the constitutive nucleolar targeting function that is provided by residues 225-262 is diminished by the autoinhibitory element located in residues 263-287. When cells recover from stress, the autoinhibitory element is inactivated, and the constitutive nucleolar targeting function restores.
Autoinhibitory domains (AIDs)
Target domain |
227-264 (Nucleolar targeting region) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for P17066
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3FE1 | X-ray | 220 A | A/B/C | 6-385 | PDB |
| AF-P17066-F1 | Predicted | AlphaFoldDB |
887 variants for P17066
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs747288040 | 2 | Q>* | No | ExAC | |
| rs747288040 | 2 | Q>K | No | ExAC | |
| rs533317416 | 4 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs533317416 | 4 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1461497557 | 5 | R>Q | No |
TOPMed gnomAD |
|
| rs1481284797 | 6 | E>* | No | gnomAD | |
| rs1387360368 | 8 | A>P | No | TOPMed | |
| rs1265770140 | 10 | G>A | No |
TOPMed gnomAD |
|
| TCGA novel | 10 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1200455204 | 11 | I>V | No | gnomAD | |
| rs376680227 | 12 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs762080859 | 13 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs1676616841 | 13 | L>V | No | TOPMed | |
| rs2102500674 | 14 | G>A | No | Ensembl | |
| rs1043984307 | 14 | G>C | No |
TOPMed gnomAD |
|
| rs1169742852 | 15 | T>A | No |
TOPMed gnomAD |
|
| rs1373709156 | 15 | T>I | No | gnomAD | |
| rs1676617211 | 17 | Y>N | No | Ensembl | |
| rs1462482521 | 20 | V>L | No |
TOPMed gnomAD |
|
| rs1462482521 | 20 | V>M | No |
TOPMed gnomAD |
|
| rs2102500695 | 21 | G>A | No | Ensembl | |
| rs1254799871 | 22 | V>M | No | TOPMed | |
| rs1676617498 | 24 | Q>* | No | TOPMed | |
| rs770187576 | 24 | Q>H | No |
ExAC gnomAD |
|
| rs1404062511 | 25 | Q>E | No | gnomAD | |
| rs1346931287 | 27 | R>C | No |
1000Genomes TOPMed gnomAD |
|
| rs1380165625 | 27 | R>P | No |
TOPMed gnomAD |
|
| rs1294307288 | 28 | V>M | No |
TOPMed gnomAD |
|
| rs1255708827 | 29 | E>D | No |
TOPMed gnomAD |
|
| rs1676618616 | 30 | I>M | No | gnomAD | |
| rs1676618523 | 30 | I>T | No | Ensembl | |
| rs1230309150 | 32 | A>S | No | gnomAD | |
| rs935038115 | 33 | N>K | No |
TOPMed gnomAD |
|
| TCGA novel | 33 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1242643725 | 35 | Q>* | No | gnomAD | |
| rs1050721174 | 35 | Q>H | No | Ensembl | |
| rs1359203473 | 36 | G>D | No | gnomAD | |
| rs1304805135 | 36 | G>R | No |
TOPMed gnomAD |
|
| rs766366684 | 37 | N>S | No |
ExAC gnomAD |
|
| rs1402015112 | 40 | T>A | No | Ensembl | |
| rs1676619904 | 41 | P>L | No | Ensembl | |
| rs529535145 | 41 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs529535145 | 41 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1430346399 | 42 | S>R | No | gnomAD | |
| rs1676620136 | 43 | Y>D | No | Ensembl | |
| rs767336202 | 44 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1396701615 | 45 | A>D | No | TOPMed | |
| rs1172476798 | 45 | A>P | No | gnomAD | |
| rs1396701615 | 45 | A>V | No | TOPMed | |
| rs1383245330 | 46 | F>C | No | gnomAD | |
| rs1194156908 | 47 | T>I | No | TOPMed | |
| rs1676621348 | 48 | D>Y | No | TOPMed | |
| rs1164047365 | 49 | T>A | No | gnomAD | |
| rs1676621568 | 49 | T>S | No | Ensembl | |
| rs755771752 | 50 | E>K | No |
ExAC gnomAD |
|
| rs755771752 | 50 | E>Q | No |
ExAC gnomAD |
|
| rs1362080929 | 51 | R>Q | No |
TOPMed gnomAD |
|
| rs1287894236 | 51 | R>W | No | gnomAD | |
| rs777447518 | 53 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs753309912 | 53 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs777447518 | 53 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1247339048 | 54 | G>R | No |
TOPMed gnomAD |
|
| rs1571996974 | 55 | D>G | No | Ensembl | |
| rs1350466628 | 56 | A>S | No |
TOPMed gnomAD |
|
| rs1315479615 | 59 | S>N | No | gnomAD | |
| rs747558623 | 61 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs1261485914 | 61 | A>T | No | gnomAD | |
| rs747558623 | 61 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1443995915 | 64 | N>I | No | gnomAD | |
| rs41297698 | 65 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1676623612 | 65 | P>L | No | TOPMed | |
| rs1676623612 | 65 | P>R | No | TOPMed | |
| rs41297698 | 65 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs41297698 VAR_060718 |
65 | P>T | No |
UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1386905358 | 66 | H>D | No |
TOPMed gnomAD |
|
| rs749318861 | 67 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs771135617 | 68 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1676624337 | 69 | V>E | No | Ensembl | |
| rs375370283 | 69 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs375370283 | 69 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1454026580 | 70 | F>L | No | gnomAD | |
| rs1317735428 | 71 | D>H | No | gnomAD | |
| rs1317735428 | 71 | D>N | No | gnomAD | |
| TCGA novel | 72 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1174058116 | 73 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1307988395 | 74 | R>P | No | gnomAD | |
| COSM4024406 | 75 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1201993758 | 75 | L>R | No | gnomAD | |
| rs150647842 | 77 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs760498423 | 77 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs150647842 | 77 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1237020289 | 78 | R>G | No | Ensembl | |
| rs1244841506 | 78 | R>H | No | gnomAD | |
| rs1676626422 | 79 | K>M | No | TOPMed | |
|
TCGA novel rs539395222 |
79 | K>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA 1000Genomes ExAC TOPMed gnomAD |
| rs1676626522 | 81 | A>P | No | Ensembl | |
| rs755476991 | 84 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs755476991 | 84 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs748495066 | 85 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs756557077 | 87 | S>L | No |
ExAC gnomAD |
|
| rs756557077 | 87 | S>W | No |
ExAC gnomAD |
|
| TCGA novel | 88 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1261111767 | 89 | M>V | No | gnomAD | |
| rs1204909190 | 91 | H>L | No | TOPMed | |
| rs143602691 | 92 | W>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs745977687 | 93 | P>H | No |
ExAC TOPMed gnomAD |
|
|
rs745977687 TCGA novel |
93 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD NCI-TCGA |
| rs774470605 | 93 | P>S | No |
ExAC gnomAD |
|
| rs774470605 | 93 | P>T | No |
ExAC gnomAD |
|
| rs201325536 | 95 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs400835 VAR_060719 |
95 | R>Q | No |
UniProt 1000Genomes ExAC dbSNP gnomAD |
|
| rs753902129 | 96 | V>L | No | Ensembl | |
| rs1050690943 | 97 | V>E | No | TOPMed | |
| rs1050690943 | 97 | V>G | No | TOPMed | |
| rs935593872 | 97 | V>L | No | TOPMed | |
| TCGA novel | 98 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs199752876 | 98 | S>R | No |
TOPMed gnomAD |
|
| rs1676629389 | 98 | S>T | No | Ensembl | |
| rs763881216 | 99 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
COSM6122132 rs1676629676 COSM6122133 |
99 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs763881216 | 99 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1676631495 | 100 | G>V | No | TOPMed | |
| rs776478719 | 101 | G>D | No |
ExAC gnomAD |
|
| rs764835459 | 102 | K>* | No |
ExAC TOPMed gnomAD |
|
| rs1676632583 | 104 | K>R | No | TOPMed | |
| rs140716677 | 105 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs753257463 | 106 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs569998924 | 106 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs569998924 | 106 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs753257463 | 106 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1356675797 | 107 | V>E | No | gnomAD | |
| rs1181813833 | 107 | V>L | No |
TOPMed gnomAD |
|
| rs1676633026 | 108 | C>Y | No | Ensembl | |
| rs1406989100 | 109 | Y>C | No |
TOPMed gnomAD |
|
| rs1676633175 | 109 | Y>H | No | Ensembl | |
| rs368369664 | 110 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1676633395 | 110 | R>H | No |
TOPMed gnomAD |
|
| rs368369664 | 110 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs745915650 | 111 | G>R | No |
ExAC gnomAD |
|
| rs1273578451 | 112 | E>D | No | gnomAD | |
| rs1676633714 | 113 | D>E | No | Ensembl | |
| rs1676633651 | 113 | D>Y | No | TOPMed | |
| rs772062602 | 114 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs772062602 | 114 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs369466542 | 115 | T>M | No |
ESP TOPMed gnomAD |
|
| rs369466542 | 115 | T>R | No |
ESP TOPMed gnomAD |
|
| rs746945909 | 116 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1170502025 | 117 | Y>* | No |
TOPMed gnomAD |
|
| rs1200521295 | 117 | Y>C | No |
TOPMed gnomAD |
|
| rs1239902942 | 118 | P>A | No | gnomAD | |
| rs1353597922 | 118 | P>L | No | gnomAD | |
| rs761626559 | 119 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs761626559 | 119 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs769438010 | 120 | E>K | No |
ExAC gnomAD |
|
| rs1571997360 | 121 | I>M | No | Ensembl | |
| rs772752500 | 121 | I>V | No |
ExAC TOPMed gnomAD |
|
| COSM3477278 | 122 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 123 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1366568914 | 123 | S>P | No |
TOPMed gnomAD |
|
| rs762454493 | 124 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1325958650 | 126 | L>P | No |
TOPMed gnomAD |
|
| rs1325958650 | 126 | L>R | No |
TOPMed gnomAD |
|
| rs751170403 | 127 | S>N | No |
ExAC gnomAD |
|
| rs1410567485 | 127 | S>R | No | TOPMed | |
| rs751170403 | 127 | S>T | No |
ExAC gnomAD |
|
| rs761239706 | 129 | M>K | No |
ExAC gnomAD |
|
| rs1676635795 | 130 | K>N | No | TOPMed | |
| rs1367356230 | 130 | K>R | No |
TOPMed gnomAD |
|
| rs1251669490 | 131 | E>K | No | TOPMed | |
| rs1196132353 | 131 | E>V | No |
TOPMed gnomAD |
|
| rs1290830548 | 132 | T>A | No | gnomAD | |
| rs1359849454 | 132 | T>K | No |
TOPMed gnomAD |
|
| rs1359849454 | 132 | T>M | No |
TOPMed gnomAD |
|
| rs1290830548 | 132 | T>S | No | gnomAD | |
| rs1676636280 | 134 | E>G | No | Ensembl | |
| rs1211298947 | 134 | E>Q | No | gnomAD | |
| rs1214572007 | 135 | A>E | No | TOPMed | |
| rs961019299 | 135 | A>P | No | TOPMed | |
| rs961019299 | 135 | A>T | No | TOPMed | |
| rs1676636644 | 136 | Y>* | No | TOPMed | |
| rs1571997459 | 136 | Y>F | No | Ensembl | |
| rs754218255 | 136 | Y>H | No | ExAC | |
| rs757589070 | 137 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1193186396 | 138 | G>D | No | gnomAD | |
| rs1286005970 | 139 | Q>E | No | Ensembl | |
| rs1286005970 | 139 | Q>K | No | Ensembl | |
| TCGA novel | 139 | Q>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750614745 | 140 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs779143167 | 140 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs375204172 | 141 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs375204172 | 141 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs369720927 | 142 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs747142076 | 142 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs747142076 | 142 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs1676637820 | 143 | H>D | No | TOPMed | |
| rs1451809834 | 143 | H>Q | No | TOPMed | |
| rs1676637820 | 143 | H>Y | No | TOPMed | |
|
COSM5827557 COSM1335679 |
144 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1571997494 | 146 | I>V | No | Ensembl | |
| rs1676638461 | 148 | V>E | No | Ensembl | |
|
COSM4918622 rs373442940 |
148 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC TOPMed gnomAD |
| rs373442940 | 148 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1401502707 | 149 | P>H | No |
TOPMed gnomAD |
|
| rs10919224 | 150 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_049605 rs10919224 |
150 | A>T | No |
UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs541175142 | 150 | A>V | No |
1000Genomes TOPMed gnomAD |
|
| rs541135426 | 151 | Y>N | No | gnomAD | |
| COSM1127294 | 152 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773122424 | 152 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs979536722 | 153 | N>D | No | gnomAD | |
|
VAR_049606 rs10919225 |
153 | N>S | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs773966021 | 154 | D>A | No |
ExAC TOPMed gnomAD |
|
|
COSM3418232 COSM5825803 rs376970321 |
154 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD NCI-TCGA Cosmic |
| rs773966021 | 154 | D>G | No |
ExAC TOPMed gnomAD |
|
|
rs10919226 VAR_049607 |
154 | D>N | No |
UniProt 1000Genomes ESP ExAC dbSNP gnomAD |
|
| rs1479069105 | 155 | S>A | No | gnomAD | |
| rs754412582 | 155 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1479069105 | 155 | S>P | No | gnomAD | |
| rs765515375 | 156 | Q>* | No |
ExAC TOPMed |
|
| rs750858365 | 156 | Q>H | No |
ExAC gnomAD |
|
| rs765515375 | 156 | Q>K | No |
ExAC TOPMed |
|
| rs142879773 | 157 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1319806 | 158 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs41297702 VAR_060720 |
159 | A>V | No |
UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
| rs138021734 | 160 | T>I | No |
ESP ExAC gnomAD |
|
| rs1676641143 | 160 | T>S | No | TOPMed | |
| rs1676641294 | 161 | K>* | No | TOPMed | |
| rs1365804389 | 161 | K>M | No | gnomAD | |
| rs781041055 | 163 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| rs1676641453 | 163 | A>P | No | TOPMed | |
|
COSM1335680 COSM5827558 |
163 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1161607741 | 164 | G>R | No | gnomAD | |
| rs373300508 | 165 | A>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs919634018 | 166 | I>M | No | TOPMed | |
| rs1426187350 | 168 | G>R | No | Ensembl | |
|
VAR_049608 rs41297704 |
170 | N>K | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs1301040093 | 170 | N>S | No |
TOPMed gnomAD |
|
| rs1193871520 | 171 | V>L | No | Ensembl | |
| TCGA novel | 171 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1676642649 | 172 | L>F | No | TOPMed | |
|
VAR_049609 rs41297708 |
173 | R>P | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs41297708 | 173 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs775207128 | 173 | R>W | No |
ExAC gnomAD |
|
| rs1361381706 | 174 | I>F | No | gnomAD | |
| rs1361381706 | 174 | I>L | No | gnomAD | |
| rs1676642969 | 174 | I>M | No | Ensembl | |
| rs1676643028 | 175 | I>L | No | Ensembl | |
| rs763396226 | 176 | N>D | No |
ExAC gnomAD |
|
| rs766529695 | 176 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1484560448 | 177 | E>* | No | gnomAD | |
| rs1250691080 | 177 | E>D | No |
TOPMed gnomAD |
|
| rs1485908134 | 177 | E>G | No |
TOPMed gnomAD |
|
|
rs41297710 VAR_049610 |
178 | P>A | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs1250306415 | 178 | P>R | No | gnomAD | |
| rs376584149 | 179 | T>M | No |
ESP ExAC gnomAD |
|
| rs1571997682 | 179 | T>P | No | Ensembl | |
| rs777795960 | 183 | I>F | No |
ExAC gnomAD |
|
| rs777795960 | 183 | I>V | No |
ExAC gnomAD |
|
| rs778645933 | 184 | A>G | No |
ExAC gnomAD |
|
| rs1557843778 | 184 | A>T | No | Ensembl | |
| rs375517694 | 185 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1290078806 | 186 | G>R | No | gnomAD | |
| rs771908639 | 186 | G>V | No |
ExAC TOPMed gnomAD |
|
| COSM4928038 | 187 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1676644745 | 188 | D>G | No | Ensembl | |
| rs1395544438 | 189 | R>G | No |
TOPMed gnomAD |
|
| rs1057428989 | 189 | R>P | No |
TOPMed gnomAD |
|
| rs1057428989 | 189 | R>Q | No |
TOPMed gnomAD |
|
| rs1395544438 | 189 | R>W | No |
TOPMed gnomAD |
|
| rs559715630 | 190 | R>P | No |
1000Genomes ExAC gnomAD |
|
| rs559715630 | 190 | R>Q | No |
1000Genomes ExAC gnomAD |
|
| rs542885030 | 190 | R>W | No | 1000Genomes | |
| rs1283424829 | 191 | G>D | No |
TOPMed gnomAD |
|
| rs1283424829 | 191 | G>V | No |
TOPMed gnomAD |
|
| rs28716417 | 192 | A>G | No | Ensembl | |
| rs1313409442 | 192 | A>T | No | gnomAD | |
| rs773781189 | 193 | G>A | No |
ExAC gnomAD |
|
| rs773781189 | 193 | G>E | No |
ExAC gnomAD |
|
| rs41297714 | 194 | E>* | No |
ExAC TOPMed gnomAD |
|
|
rs41297714 VAR_049611 |
194 | E>K | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs1207661887 | 195 | R>G | No |
TOPMed gnomAD |
|
| rs766725713 | 196 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs139552185 | 197 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs139552185 | 197 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV001620468 rs1079109 VAR_024182 |
198 | L>F | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs752677365 | 198 | L>P | No |
ExAC gnomAD |
|
| rs760833205 | 199 | I>S | No |
ExAC gnomAD |
|
| rs760833205 | 199 | I>T | No |
ExAC gnomAD |
|
| rs1426766660 | 199 | I>V | No | gnomAD | |
| TCGA novel | 200 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1372373106 | 200 | F>S | No | gnomAD | |
| rs1676646918 | 201 | D>N | No |
TOPMed gnomAD |
|
| rs570575705 | 202 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM898562 | 203 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 203 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2102501663 | 204 | G>W | No | Ensembl | |
| rs149827217 | 206 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs149827217 | 206 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs778838127 | 207 | F>C | No |
ExAC gnomAD |
|
| rs750293215 | 207 | F>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 208 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs903920193 | 208 | D>Y | No |
TOPMed gnomAD |
|
| rs1369131601 | 209 | V>M | No |
TOPMed gnomAD |
|
| COSM3477279 | 213 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765827701 | 213 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs765827701 | 213 | S>T | No |
ExAC TOPMed gnomAD |
|
| COSM1689026 | 214 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753179782 | 214 | I>N | No |
ExAC gnomAD |
|
| rs780633158 | 215 | D>E | No |
ExAC gnomAD |
|
| rs1676648415 | 216 | A>T | No |
TOPMed gnomAD |
|
| rs771473445 | 217 | G>A | No |
ExAC TOPMed |
|
| rs1381967152 | 217 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1359127109 | 218 | V>A | No | gnomAD | |
| rs1676648889 | 219 | F>S | No | Ensembl | |
| rs549828716 | 219 | F>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs772230111 | 221 | V>M | No |
ExAC gnomAD |
|
| TCGA novel | 223 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1262508513 | 224 | T>S | No |
TOPMed gnomAD |
|
| rs1391704468 | 227 | D>V | No | TOPMed | |
| rs1676649416 | 228 | T>S | No | TOPMed | |
| rs1190400159 | 229 | H>Q | No | gnomAD | |
| rs368300598 | 230 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs761820336 | 232 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1165061458 | 232 | G>R | No |
TOPMed gnomAD |
|
| rs761820336 | 232 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs147002100 | 234 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1676650074 | 236 | D>E | No | gnomAD | |
| rs758292053 | 236 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs758292053 | 236 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1676650167 | 237 | N>K | No | TOPMed | |
| rs1676650121 | 237 | N>T | No | Ensembl | |
| rs371251812 | 238 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs371251812 | 238 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs780731728 | 240 | V>L | No |
ExAC gnomAD |
|
| rs747695864 | 242 | H>L | No |
ExAC gnomAD |
|
| TCGA novel | 244 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1676650863 | 245 | E>* | No |
TOPMed gnomAD |
|
| TCGA novel | 245 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771385868 | 246 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs1315421376 | 247 | F>L | No |
TOPMed gnomAD |
|
| rs779417109 | 248 | R>L | No |
ExAC gnomAD |
|
| rs779417109 | 248 | R>Q | No |
ExAC gnomAD |
|
| rs1261430992 | 249 | R>Q | No |
TOPMed gnomAD |
|
| rs1676651297 | 249 | R>W | No | TOPMed | |
| rs772491934 | 251 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1241134773 | 252 | G>E | No |
TOPMed gnomAD |
|
| rs1350231009 | 252 | G>R | No | Ensembl | |
| rs2102501853 | 254 | D>A | No | Ensembl | |
| rs374736615 | 256 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1416986922 | 257 | G>E | No | gnomAD | |
| rs975454617 | 257 | G>W | No |
TOPMed gnomAD |
|
| rs1157873635 | 258 | N>K | No |
TOPMed gnomAD |
|
| rs1676652044 | 259 | K>N | No | TOPMed | |
| rs1676652102 | 260 | R>C | No | Ensembl | |
|
rs41299256 TCGA novel VAR_049612 |
260 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD NCI-TCGA |
| rs1313114684 | 260 | R>L | No | gnomAD | |
| rs1676652102 | 260 | R>S | No | Ensembl | |
| rs1458310638 | 261 | A>D | No | gnomAD | |
| rs1412101802 | 261 | A>S | No |
TOPMed gnomAD |
|
| rs1458310638 | 261 | A>V | No | gnomAD | |
|
rs1676652421 TCGA novel |
263 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1676652421 | 263 | R>L | No | Ensembl | |
| rs370301185 | 265 | L>Q | No |
1000Genomes ExAC gnomAD |
|
|
COSM4024408 rs763048231 |
266 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
COSM898564 rs1676652746 |
266 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs751356005 | 267 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs754627558 | 268 | A>P | No |
ExAC gnomAD |
|
| rs141711758 | 269 | C>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1455150285 | 271 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs138613886 | 271 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1676653401 | 272 | A>T | No | Ensembl | |
| rs1676653471 | 272 | A>V | No | Ensembl | |
| rs1239026192 | 273 | K>N | No |
TOPMed gnomAD |
|
| rs534863825 | 274 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1676653786 | 274 | R>L | No | Ensembl | |
| rs534863825 | 274 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200790521 | 276 | L>P | No |
ExAC gnomAD |
|
| rs200790521 | 276 | L>Q | No |
ExAC gnomAD |
|
| rs376057542 | 277 | S>Y | No |
TOPMed gnomAD |
|
| rs746371594 | 278 | S>F | No |
ExAC gnomAD |
|
| rs777534527 | 279 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs2102501978 | 280 | T>N | No | Ensembl | |
| rs747377798 | 281 | Q>* | No |
ExAC gnomAD |
|
| COSM4024409 | 281 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768886150 | 281 | Q>R | No |
ExAC gnomAD |
|
| rs1676654422 | 282 | A>P | No | Ensembl | |
| rs1676654422 | 282 | A>T | No | Ensembl | |
| rs748183765 | 283 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs748183765 | 283 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs1243256647 | 284 | L>M | No |
TOPMed gnomAD |
|
| rs1308871458 | 284 | L>Q | No | gnomAD | |
| rs1352636906 | 285 | E>* | No | gnomAD | |
| rs1368362011 | 286 | I>K | No |
TOPMed gnomAD |
|
| rs142781522 | 286 | I>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1368362011 | 286 | I>T | No |
TOPMed gnomAD |
|
| rs1676655605 | 287 | D>E | No | Ensembl | |
| rs774156179 | 287 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs577751772 | 287 | D>Y | No |
1000Genomes ExAC gnomAD |
|
| rs1676655658 | 288 | S>T | No | Ensembl | |
| rs1676655840 | 290 | F>L | No | gnomAD | |
| rs1483864625 | 291 | E>D | No | gnomAD | |
| rs1676656000 | 291 | E>G | No |
TOPMed gnomAD |
|
| COSM4855905 | 291 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767097756 | 292 | G>S | No |
ExAC gnomAD |
|
| rs752353403 | 293 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs543491153 | 295 | F>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1676656510 | 296 | Y>H | No | Ensembl | |
|
VAR_060721 rs41297718 |
297 | T>K | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs41297718 | 297 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs41297718 | 297 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1409895049 | 298 | S>P | No | gnomAD | |
| rs1383581949 | 299 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs148797832 | 300 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs758911776 | 301 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs758911776 | 301 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs1302735301 COSM4024411 |
301 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1302735301 | 301 | R>P | No |
TOPMed gnomAD |
|
| rs1676657230 | 302 | A>S | No | TOPMed | |
| rs780461359 | 302 | A>V | No |
ExAC gnomAD |
|
| rs1676657328 | 303 | R>C | No | TOPMed | |
| rs1676657328 | 303 | R>G | No | TOPMed | |
| rs747352949 | 303 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs747352949 | 303 | R>P | No |
ExAC gnomAD |
|
| rs1276547763 | 304 | F>L | No | gnomAD | |
| rs755314257 | 304 | F>L | No |
ExAC gnomAD |
|
| rs781731364 | 305 | E>K | No |
ExAC gnomAD |
|
| COSM2087228 | 305 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748365478 | 306 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs748365478 | 306 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1219828143 | 308 | C>F | No |
TOPMed gnomAD |
|
| rs1676657768 | 308 | C>R | No | Ensembl | |
| rs1219828143 | 308 | C>Y | No |
TOPMed gnomAD |
|
| rs1571998222 | 310 | D>A | No | Ensembl | |
| rs1451679959 | 310 | D>E | No | gnomAD | |
| rs529246286 | 310 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs1571998222 | 310 | D>V | No | Ensembl | |
| rs529246286 | 310 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1676658298 | 311 | L>F | No | Ensembl | |
| rs1223217704 | 312 | F>C | No |
TOPMed gnomAD |
|
| rs749357670 | 312 | F>L | No |
ExAC gnomAD |
|
| rs774167328 | 313 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 313 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs371491425 | 314 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1443108795 | 315 | T>I | No |
TOPMed gnomAD |
|
| rs1486891751 | 316 | L>P | No | TOPMed | |
| rs1407290183 | 318 | P>L | No | gnomAD | |
| rs1407290183 | 318 | P>R | No | gnomAD | |
| rs760299991 | 318 | P>S | No |
ExAC gnomAD |
|
| rs763776911 | 319 | V>A | No |
ExAC gnomAD |
|
| TCGA novel | 322 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs948651316 | 322 | A>V | No |
TOPMed gnomAD |
|
|
TCGA novel rs1676665875 |
324 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1676666154 | 325 | D>G | No | Ensembl | |
| rs766855467 | 325 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs766855467 | 325 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs867989346 | 326 | A>V | No | Ensembl | |
| rs755563815 | 328 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs781671425 | 329 | D>G | No |
ExAC TOPMed gnomAD |
|
| COSM676641 | 329 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs781671425 | 329 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs751196854 | 331 | A>V | No | Ensembl | |
|
COSM676640 COSM5613798 |
332 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1676666937 | 332 | Q>P | No | TOPMed | |
| rs756360777 | 333 | I>T | No |
ExAC gnomAD |
|
| rs753149053 | 333 | I>V | No |
ExAC gnomAD |
|
| COSM4881465 | 334 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778163585 | 334 | H>R | No |
ExAC gnomAD |
|
| rs749331338 | 335 | D>N | No |
ExAC gnomAD |
|
| rs745780265 | 336 | V>D | No |
ExAC gnomAD |
|
|
rs417707 VAR_059360 |
336 | V>F | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs417707 | 336 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1157013376 | 337 | V>F | No |
TOPMed gnomAD |
|
|
COSM3399920 rs1157013376 |
337 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs775234265 | 338 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs548751388 | 339 | V>G | No |
1000Genomes ExAC |
|
| rs142859332 | 339 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs142859332 | 339 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs12119062 | 340 | G>E | No | Ensembl | |
| rs1676668846 | 340 | G>R | No | Ensembl | |
|
rs778744518 COSM1639592 COSM6048173 |
341 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs138329594 | 341 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs141771248 | 341 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1676669556 | 342 | S>C | No | TOPMed | |
| rs1238464878 | 343 | T>A | No | TOPMed | |
|
COSM4457064 rs760084677 |
344 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs768165808 | 344 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1557844207 | 345 | I>N | No | Ensembl | |
| rs1676670453 | 346 | P>L | No | Ensembl | |
| rs753061469 | 346 | P>T | No |
ExAC gnomAD |
|
| rs756559306 | 347 | K>R | No |
ExAC gnomAD |
|
| rs777983283 | 349 | Q>E | No |
ExAC gnomAD |
|
| rs1676671038 | 350 | K>E | No | Ensembl | |
| rs144853604 | 350 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1179945729 | 351 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1161537834 | 353 | Q>P | No | gnomAD | |
| rs1231124597 | 354 | D>G | No | TOPMed | |
| rs1427268348 | 354 | D>N | No | gnomAD | |
| rs1427268348 | 354 | D>Y | No | gnomAD | |
| rs1676672044 | 355 | F>L | No | TOPMed | |
| rs1571998478 | 355 | F>L | No | Ensembl | |
| rs1464520290 | 357 | N>K | No |
TOPMed gnomAD |
|
| COSM898568 | 358 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200985857 | 358 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs200985857 | 358 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1274756692 | 358 | G>V | No | gnomAD | |
| rs1676672566 | 359 | K>Q | No | TOPMed | |
| rs997085398 | 360 | E>A | No | TOPMed | |
| rs779993877 | 360 | E>D | No |
ExAC gnomAD |
|
|
rs1676672649 COSM3477281 |
360 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| COSM3360439 | 360 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1676673681 | 362 | N>D | No | TOPMed | |
| rs1676673755 | 363 | K>R | No | gnomAD | |
| rs768447503 | 364 | S>N | No |
ExAC gnomAD |
|
| rs776559394 | 365 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs747731136 | 366 | N>K | No |
ExAC gnomAD |
|
| rs1676674052 | 366 | N>S | No | gnomAD | |
| rs1438013160 | 367 | P>L | No | gnomAD | |
| rs1026665677 | 369 | E>K | No | TOPMed | |
| TCGA novel | 371 | V>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1257049779 | 373 | Y>N | No | gnomAD | |
| rs768078077 | 374 | G>W | No |
ExAC gnomAD |
|
| rs1184579422 | 375 | A>D | No | gnomAD | |
| rs9659608 | 375 | A>S | No |
1000Genomes ExAC gnomAD |
|
| rs1266905770 | 376 | A>T | No | gnomAD | |
| rs764355185 | 376 | A>V | No |
ExAC gnomAD |
|
| rs754280500 | 377 | V>A | No | ExAC | |
| rs754280500 | 377 | V>G | No | ExAC | |
| rs375064286 | 378 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1177000277 | 379 | A>E | No | TOPMed | |
| rs750458058 | 380 | A>T | No |
ExAC gnomAD |
|
| rs1166542434 | 380 | A>V | No |
TOPMed gnomAD |
|
| rs1571998572 | 381 | V>G | No | Ensembl | |
| rs758490304 | 381 | V>L | No |
ExAC gnomAD |
|
| rs758490304 | 381 | V>M | No |
ExAC gnomAD |
|
| rs1430043939 | 382 | L>F | No |
TOPMed gnomAD |
|
| rs1571998577 | 382 | L>V | No | Ensembl | |
| rs779902210 | 383 | M>L | No |
ExAC gnomAD |
|
| rs368785490 | 383 | M>R | No | gnomAD | |
| rs754954136 | 385 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1571998629 | 385 | D>G | No | Ensembl | |
| rs746948130 | 385 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs746948130 | 385 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1333392731 | 386 | K>E | No | gnomAD | |
| rs1676678053 | 386 | K>R | No | Ensembl | |
| rs1676678177 | 388 | E>D | No | TOPMed | |
| rs1676678117 | 388 | E>K | No | TOPMed | |
| rs1571998652 | 390 | V>G | No | Ensembl | |
| rs748002346 | 391 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs1676678479 | 392 | D>N | No | Ensembl | |
| rs1676678535 | 392 | D>V | No | Ensembl | |
| rs1211394868 | 393 | L>I | No |
TOPMed gnomAD |
|
| rs1207592735 | 394 | L>P | No | gnomAD | |
| rs769278723 | 397 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs772930470 | 398 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs559953007 | 399 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1676679243 | 400 | P>T | No | TOPMed | |
| rs774061722 | 401 | L>P | No |
ExAC gnomAD |
|
| rs1676679549 | 402 | S>F | No | TOPMed | |
| rs1676679504 | 402 | S>T | No | TOPMed | |
| rs1676679549 | 402 | S>Y | No | TOPMed | |
| rs1676679619 | 404 | G>W | No | TOPMed | |
| rs1571998707 | 406 | E>G | No | Ensembl | |
| rs1676679841 | 407 | T>R | No | Ensembl | |
| rs1676679906 | 409 | G>S | No | Ensembl | |
| rs1170107914 | 410 | G>R | No | gnomAD | |
| rs1571998725 | 411 | V>G | No | Ensembl | |
| rs1311333619 | 412 | M>T | No | TOPMed | |
| rs1676680356 | 413 | T>S | No | Ensembl | |
| rs1293659614 | 414 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs776820851 | 415 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs1320416580 | 416 | I>M | No | gnomAD | |
| rs371404994 | 417 | Q>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs150927976 | 417 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs750651630 | 418 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1321405408 | 420 | A>T | No |
TOPMed gnomAD |
|
| rs369670009 | 422 | I>L | No |
ESP gnomAD |
|
| rs369670009 | 422 | I>V | No |
ESP gnomAD |
|
| rs375473426 | 423 | P>A | No | Ensembl | |
| rs1267340454 | 423 | P>R | No | gnomAD | |
| rs375473426 | 423 | P>T | No | Ensembl | |
| rs1484910088 | 424 | T>I | No | gnomAD | |
| rs766436986 | 425 | K>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 425 | K>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373877131 | 426 | Q>H | No |
ESP gnomAD |
|
| rs1676681808 | 426 | Q>K | No | 1000Genomes | |
| rs754828859 | 426 | Q>P | No |
ExAC gnomAD |
|
| rs781208419 | 427 | T>I | No |
ExAC gnomAD |
|
| rs1159727056 | 428 | Q>E | No | TOPMed | |
| rs1557844379 | 428 | Q>R | No | TOPMed | |
| rs1676682267 | 429 | T>A | No | TOPMed | |
| rs747835514 | 429 | T>I | No |
ExAC gnomAD |
|
| rs777776533 | 431 | T>A | No |
ExAC gnomAD |
|
| rs1455137286 | 431 | T>S | No |
TOPMed gnomAD |
|
| rs748933785 | 433 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs200111192 | 434 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs200111192 | 434 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs768996694 | 435 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs745403310 | 435 | D>H | No |
ExAC gnomAD |
|
| rs745403310 | 435 | D>N | No |
ExAC gnomAD |
|
| rs745403310 | 435 | D>Y | No |
ExAC gnomAD |
|
|
rs140320557 RCV000963598 |
437 | Q>* | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs140320557 | 437 | Q>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs770193043 | 438 | P>A | No |
ExAC gnomAD |
|
| rs770193043 | 438 | P>S | No |
ExAC gnomAD |
|
| rs773628292 | 439 | G>A | No |
ExAC gnomAD |
|
| TCGA novel | 439 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs11577457 | 440 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs766617427 | 442 | I>F | No |
ExAC gnomAD |
|
| rs1676684249 | 442 | I>N | No | TOPMed | |
| rs1329830552 | 443 | Q>P | No | gnomAD | |
| rs751586268 | 444 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs751586268 | 444 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs145456895 | 445 | Y>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 446 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs56366425 | 447 | G>V | No |
1000Genomes ExAC gnomAD |
|
| rs1676684808 | 448 | E>* | No | Ensembl | |
| rs1676684933 | 450 | A>P | No | TOPMed | |
| COSM898570 | 450 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs563282313 | 451 | M>V | No |
1000Genomes ExAC gnomAD |
|
| rs1676685064 | 452 | T>P | No | Ensembl | |
| rs1676685119 | 452 | T>S | No | Ensembl | |
| rs1676685510 | 453 | K>* | No | TOPMed | |
| rs1571998900 | 454 | D>Y | No | Ensembl | |
| rs753727934 | 455 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1676685625 | 455 | N>S | No | TOPMed | |
| rs200236588 | 459 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1676688846 | 460 | R>C | No | TOPMed | |
| rs779500653 | 460 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1348926152 | 461 | F>L | No | gnomAD | |
| TCGA novel | 462 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779930805 | 462 | E>Q | No |
ExAC gnomAD |
|
| rs1289112914 | 463 | L>F | No |
TOPMed gnomAD |
|
| rs1289112914 | 463 | L>V | No |
TOPMed gnomAD |
|
|
rs388218 VAR_049613 |
464 | S>I | No |
UniProt ExAC dbSNP gnomAD |
|
| rs388218 | 464 | S>N | No |
ExAC gnomAD |
|
| rs773522375 | 465 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1676689390 | 466 | I>T | No | Ensembl | |
| COSM3477282 | 467 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1676689523 | 468 | P>S | No | TOPMed | |
| rs1268153113 | 469 | A>S | No |
TOPMed gnomAD |
|
| rs1268153113 | 469 | A>T | No |
TOPMed gnomAD |
|
| rs185517137 | 470 | P>L | No |
1000Genomes ExAC gnomAD |
|
| rs771079291 | 470 | P>S | No |
ExAC gnomAD |
|
| rs771079291 | 470 | P>T | No |
ExAC gnomAD |
|
| rs759743052 | 471 | R>C | No |
ExAC TOPMed gnomAD |
|
|
VAR_049614 rs41299256 |
471 | R>H | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs759743052 | 471 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs534600268 | 472 | G>R | No |
1000Genomes TOPMed |
|
| rs752767314 | 474 | P>R | No |
ExAC gnomAD |
|
| TCGA novel | 475 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 475 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1434252092 | 476 | I>V | No |
TOPMed gnomAD |
|
| rs1676690777 | 477 | E>A | No | Ensembl | |
| rs1571999000 | 477 | E>Q | No | Ensembl | |
| rs1217046857 | 478 | V>M | No |
TOPMed gnomAD |
|
| rs1676690898 | 479 | T>A | No | gnomAD | |
| rs753638985 | 479 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs753638985 | 479 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs750089452 | 481 | D>N | No |
ExAC gnomAD |
|
| rs1167564117 | 482 | I>T | No |
TOPMed gnomAD |
|
| rs1676691551 | 484 | A>T | No | Ensembl | |
|
rs1368946919 COSM898572 |
484 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1372506877 | 485 | N>D | No | gnomAD | |
| rs1434316168 | 486 | G>A | No | gnomAD | |
| rs1676691916 | 487 | I>T | No | Ensembl | |
| rs1212960631 | 487 | I>V | No | TOPMed | |
| rs1304112713 | 488 | L>M | No |
TOPMed gnomAD |
|
| rs147297153 | 488 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs147297153 | 488 | L>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs756562408 | 489 | S>R | No |
ExAC gnomAD |
|
|
rs1305401466 COSM4024413 |
490 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1305091226 | 491 | T>I | No |
TOPMed gnomAD |
|
| rs778262172 | 491 | T>P | No |
ExAC gnomAD |
|
| rs778262172 | 491 | T>S | No |
ExAC gnomAD |
|
| rs200558605 | 494 | D>V | No | 1000Genomes | |
| rs1676692449 | 495 | R>K | No | Ensembl | |
| rs1439045672 | 496 | S>G | No | gnomAD | |
| rs1467026852 | 496 | S>R | No |
TOPMed gnomAD |
|
| rs1218827927 | 497 | T>I | No |
TOPMed gnomAD |
|
| rs1245602509 | 498 | G>A | No |
TOPMed gnomAD |
|
| rs1245602509 | 498 | G>V | No |
TOPMed gnomAD |
|
| rs1489117415 | 500 | A>P | No | gnomAD | |
| rs143965374 | 501 | N>D | No | ESP | |
| rs1676692934 | 501 | N>I | No | TOPMed | |
| rs1403657498 | 501 | N>K | No | gnomAD | |
| rs2102502925 | 502 | K>R | No | Ensembl | |
| rs370499932 | 503 | I>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs774636210 | 503 | I>N | No |
ExAC TOPMed gnomAD |
|
| rs370499932 | 503 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs746078527 | 506 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs746078527 | 506 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs373775014 | 507 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs148603479 | 510 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs556997263 | 511 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1015254375 | 511 | R>W | No |
TOPMed gnomAD |
|
| rs776715089 | 512 | L>Q | No |
ExAC TOPMed gnomAD |
|
|
rs1676694893 TCGA novel |
513 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2102502958 | 513 | S>R | No | Ensembl | |
| rs750236943 | 517 | V>A | No |
ExAC gnomAD |
|
| rs750236943 | 517 | V>E | No |
ExAC gnomAD |
|
| rs750236943 | 517 | V>G | No |
ExAC gnomAD |
|
| TCGA novel | 517 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1298054349 | 519 | R>K | No |
TOPMed gnomAD |
|
| TCGA novel | 519 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1288565562 | 520 | M>I | No | gnomAD | |
| rs1676695317 | 520 | M>T | No | TOPMed | |
| rs765967044 | 520 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs199677197 | 521 | V>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1676695439 | 521 | V>L | No | Ensembl | |
| rs969882012 | 522 | H>Y | No | TOPMed | |
| rs1315311355 | 523 | E>G | No | TOPMed | |
| rs1676695824 | 524 | A>T | No | gnomAD | |
| rs749779835 | 525 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs749779835 | 525 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1676696043 | 526 | Q>* | No | TOPMed | |
| rs1676696043 | 526 | Q>E | No | TOPMed | |
| rs1676696181 | 526 | Q>H | No |
TOPMed gnomAD |
|
| rs1676696129 | 526 | Q>R | No | TOPMed | |
| rs1244176272 | 527 | Y>* | No | gnomAD | |
|
VAR_049615 rs570189 |
528 | K>E | No |
UniProt dbSNP gnomAD |
|
|
rs570167 VAR_059361 |
528 | K>R | No |
UniProt ExAC dbSNP gnomAD |
|
| rs1571999136 | 529 | A>T | No | Ensembl | |
| rs1676696651 | 530 | E>D | No | Ensembl | |
| rs536900810 | 531 | D>G | No | Ensembl | |
| rs200404972 | 531 | D>H | No |
1000Genomes ESP ExAC gnomAD |
|
| rs200404972 | 531 | D>N | No |
1000Genomes ESP ExAC gnomAD |
|
| rs772289992 | 532 | E>D | No |
ExAC gnomAD |
|
| rs3820450 | 532 | E>K | No |
ExAC gnomAD |
|
| rs775589068 | 533 | A>T | No |
ExAC gnomAD |
|
| rs1676697159 | 535 | R>K | No | Ensembl | |
| rs768856096 | 536 | D>H | No |
ExAC gnomAD |
|
| rs768856096 | 536 | D>N | No |
ExAC gnomAD |
|
| TCGA novel | 537 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1676697380 | 537 | R>T | No | Ensembl | |
| rs1571999172 | 538 | V>G | No | Ensembl | |
| rs1446701682 | 538 | V>L | No | gnomAD | |
| COSM898573 | 538 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1445388720 | 539 | A>D | No | gnomAD | |
| rs1164393524 | 539 | A>T | No |
TOPMed gnomAD |
|
| rs1445388720 | 539 | A>V | No | gnomAD | |
| rs1571999181 | 540 | A>G | No | Ensembl | |
| COSM301117 | 541 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765131903 | 543 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1385017385 | 544 | L>P | No | gnomAD | |
| TCGA novel | 546 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1676698223 | 546 | A>T | No | TOPMed | |
| rs1249727214 | 546 | A>V | No |
TOPMed gnomAD |
|
| rs1676698347 | 547 | H>R | No | gnomAD | |
| rs1676698495 | 548 | V>A | No | Ensembl | |
| rs1234668845 | 548 | V>I | No |
TOPMed gnomAD |
|
| rs1676698557 | 550 | H>Y | No | Ensembl | |
| rs1329134456 | 552 | K>R | No | gnomAD | |
|
COSM5827563 COSM3689095 |
553 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs573507345 | 554 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs553084994 | 554 | S>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs573507345 | 554 | S>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751164008 | 555 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1187121407 | 556 | Q>P | No |
TOPMed gnomAD |
|
| rs1187121407 | 556 | Q>R | No |
TOPMed gnomAD |
|
| rs2102503102 | 557 | E>K | No | Ensembl | |
| TCGA novel | 559 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1213260056 | 559 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA |
| rs1381208538 | 560 | L>H | No | gnomAD | |
| rs1238198599 | 560 | L>I | No | gnomAD | |
| rs754681312 | 561 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs754681312 | 561 | R>T | No |
ExAC TOPMed gnomAD |
|
|
VAR_024183 rs753856 |
562 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
| rs1676700126 | 562 | D>H | No |
TOPMed gnomAD |
|
|
rs1676700126 TCGA novel |
562 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1316735108 | 563 | K>N | No | TOPMed | |
| rs1676700734 | 563 | K>R | No | Ensembl | |
| rs757720987 | 565 | P>L | No |
ExAC gnomAD |
|
| rs757720987 | 565 | P>R | No |
ExAC gnomAD |
|
| rs1384313948 | 565 | P>T | No |
TOPMed gnomAD |
|
| rs750741969 | 566 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs1412474766 | 566 | E>G | No | gnomAD | |
|
rs750741969 COSM288956 |
566 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs750741969 | 566 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs371075949 | 567 | E>D | No |
ESP ExAC gnomAD |
|
| rs780535778 | 568 | D>E | No |
ExAC gnomAD |
|
| COSM3477283 | 568 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1416215277 | 569 | R>G | No | gnomAD | |
| TCGA novel | 569 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1416215277 | 569 | R>W | No | gnomAD | |
| rs140843448 | 570 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs769050632 | 570 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs781393388 | 571 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs781393388 | 571 | K>Q | No |
ExAC TOPMed gnomAD |
|
|
rs452004 VAR_049616 |
572 | M>V | No |
UniProt 1000Genomes ExAC dbSNP gnomAD |
|
| rs1676701906 | 573 | Q>P | No | TOPMed | |
|
COSM898574 rs1676702043 |
574 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1571999285 | 574 | D>N | No | Ensembl | |
| rs769711481 | 575 | K>M | No |
ExAC TOPMed gnomAD |
|
| rs769711481 | 575 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1200310441 | 576 | C>W | No |
TOPMed gnomAD |
|
| rs368844 | 577 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_049617 rs368844 |
577 | R>Q | No |
UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs189929972 | 577 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1251201961 | 578 | E>* | No |
TOPMed gnomAD |
|
| rs1251201961 | 578 | E>Q | No |
TOPMed gnomAD |
|
|
COSM5613801 COSM5613802 |
579 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774179752 | 580 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs371758707 | 581 | A>P | No | Ensembl | |
| rs759155479 | 583 | L>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1375800565 | 584 | E>A | No |
TOPMed gnomAD |
|
| rs1676703196 | 584 | E>D | No | TOPMed | |
| rs1375800565 | 584 | E>G | No |
TOPMed gnomAD |
|
| rs1171830040 | 584 | E>K | No | gnomAD | |
| rs752153187 | 585 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1242864696 | 585 | H>R | No | TOPMed | |
| rs767187869 | 585 | H>Y | No |
ExAC gnomAD |
|
| rs371557673 | 586 | N>K | No |
ESP ExAC gnomAD |
|
| rs1676703532 | 588 | L>Q | No | TOPMed | |
| rs1676703465 | 588 | L>V | No | TOPMed | |
| rs1048586271 | 589 | A>V | No |
TOPMed gnomAD |
|
| rs765709408 | 590 | E>G | No |
ExAC gnomAD |
|
| rs1226478919 | 591 | K>M | No | gnomAD | |
| rs1483501425 | 593 | E>D | No |
TOPMed gnomAD |
|
| rs1274107912 | 593 | E>G | No | gnomAD | |
| rs1204675341 | 593 | E>K | No | gnomAD | |
| rs1197685339 | 594 | Y>* | No |
TOPMed gnomAD |
|
| rs1265326912 | 596 | H>N | No |
TOPMed gnomAD |
|
| rs750891673 | 596 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs759004813 | 597 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs1395486591 | 599 | R>K | No |
TOPMed gnomAD |
|
| rs1395486591 | 599 | R>T | No |
TOPMed gnomAD |
|
| rs373584967 | 600 | E>D | No |
ESP ExAC gnomAD |
|
|
TCGA novel rs1676704292 |
600 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1389240846 | 602 | E>A | No |
TOPMed gnomAD |
|
| rs367720187 | 602 | E>D | No |
ESP TOPMed |
|
| rs1389240846 | 602 | E>G | No |
TOPMed gnomAD |
|
| rs752014698 | 602 | E>K | No |
ExAC gnomAD |
|
| rs1676704588 | 603 | Q>* | No | TOPMed | |
| rs1462169745 | 604 | I>M | No | gnomAD | |
| rs1172976624 | 604 | I>S | No |
TOPMed gnomAD |
|
| rs1380833506 | 604 | I>V | No | TOPMed | |
| rs375083427 | 606 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs781574993 | 606 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1676705612 | 607 | P>L | No | TOPMed | |
| rs1327096020 | 608 | I>V | No |
TOPMed gnomAD |
|
|
COSM898575 rs1373650826 |
609 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs1261405122 | 610 | S>F | No |
TOPMed gnomAD |
|
| rs528969398 | 612 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 612 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1297301026 | 612 | L>R | No |
TOPMed gnomAD |
|
|
COSM3802580 rs777963049 COSM5832350 |
613 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs777963049 | 613 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs749157218 | 614 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1229840164 | 614 | G>W | No | gnomAD | |
| rs2102503343 | 615 | G>E | No | Ensembl | |
| rs138819450 | 617 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1676706289 | 617 | G>S | No | TOPMed | |
| rs759347637 | 618 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs759347637 | 618 | V>I | No |
ExAC TOPMed gnomAD |
|
|
COSM3477284 rs1469763638 |
619 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1428789816 | 620 | G>E | No | gnomAD | |
| rs775127913 | 620 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs763500779 | 621 | G>C | No |
ExAC gnomAD |
|
| rs1456907374 | 624 | C>R | No | gnomAD | |
| rs439078 | 625 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs439078 | 625 | G>S | No |
ExAC TOPMed gnomAD |
|
|
rs41299260 VAR_049618 |
626 | T>A | No |
UniProt ExAC dbSNP gnomAD |
|
| rs41299260 | 626 | T>P | No |
ExAC gnomAD |
|
| rs1456089269 | 626 | T>S | No | gnomAD | |
| rs1461595109 | 627 | Q>E | No |
TOPMed gnomAD |
|
|
COSM5588009 rs755394706 COSM3477285 |
629 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs52798304 | 629 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs52798304 | 629 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs52798304 | 629 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs755394706 | 629 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1478340207 | 630 | Q>* | No | TOPMed | |
| rs1444643999 | 631 | G>E | No | Ensembl | |
| rs749414474 | 632 | D>H | No |
ExAC gnomAD |
|
| rs757093148 | 634 | S>G | No |
ExAC gnomAD |
|
| rs1676708256 | 635 | T>A | No | TOPMed | |
| rs778834594 | 635 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs778834594 | 635 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs745597378 | 636 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs771849888 | 637 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs771849888 | 637 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1676708629 | 637 | P>S | No |
TOPMed gnomAD |
|
| rs1255733359 | 638 | I>V | No |
TOPMed gnomAD |
|
| rs199535758 | 639 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs746621539 | 640 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs768397398 | 641 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs768397398 | 641 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1676709404 | 643 | D>E | No | TOPMed |
No associated diseases with P17066
3 regional properties for P17066
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Heat shock protein 70, conserved site | 11 - 18 | IPR018181-1 |
| conserved_site | Heat shock protein 70, conserved site | 199 - 212 | IPR018181-2 |
| conserved_site | Heat shock protein 70, conserved site | 336 - 350 | IPR018181-3 |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| blood microparticle | A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids. |
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| ATP-dependent protein folding chaperone | Binding to a protein or a protein-containing complex to assist the protein folding process, driven by ATP hydrolysis. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| heat shock protein binding | Binding to a heat shock protein, a protein synthesized or activated in response to heat shock. |
| protein folding chaperone | Binding to a protein or a protein-containing complex to assist the protein folding process. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| unfolded protein binding | Binding to an unfolded protein. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to heat | 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 heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
| chaperone cofactor-dependent protein refolding | The process of assisting in the correct posttranslational noncovalent assembly of proteins, which is dependent on additional protein cofactors. This process occurs over one or several cycles of nucleotide hydrolysis-dependent binding and release. |
| protein refolding | The process carried out by a cell that restores the biological activity of an unfolded or misfolded protein, using helper proteins such as chaperones. |
| response to unfolded protein | 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 an unfolded protein stimulus. |
57 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P19120 | HSPA8 | Heat shock cognate 71 kDa protein | Bos taurus (Bovine) | SS |
| Q27975 | HSPA1A | Heat shock 70 kDa protein 1A | Bos taurus (Bovine) | SS |
| Q2YDD0 | HSPA14 | Heat shock 70 kDa protein 14 | Bos taurus (Bovine) | SS |
| P0CB32 | HSPA1L | Heat shock 70 kDa protein 1-like | Bos taurus (Bovine) | SS |
| O73885 | HSPA8 | Heat shock cognate 71 kDa protein | Gallus gallus (Chicken) | SS |
| E1C2P3 | HSPA14 | Heat shock 70 kDa protein 14 | Gallus gallus (Chicken) | SS |
| P08106 | Heat shock 70 kDa protein | Gallus gallus (Chicken) | SS | |
| P77319 | hscC | Chaperone protein HscC | Escherichia coli (strain K12) | PR |
| P0A6Y8 | dnaK | Chaperone protein DnaK | Escherichia coli (strain K12) | SS |
| P29843 | Hsc70-1 | Heat shock 70 kDa protein cognate 1 | Drosophila melanogaster (Fruit fly) | SS |
| P11147 | Hsc70-4 | Heat shock 70 kDa protein cognate 4 | Drosophila melanogaster (Fruit fly) | SS |
| P02825 | Hsp70Ab | Major heat shock 70 kDa protein Ab | Drosophila melanogaster (Fruit fly) | SS |
| P82910 | Hsp70Aa | Major heat shock 70 kDa protein Aa | Drosophila melanogaster (Fruit fly) | SS |
| Q8INI8 | Hsp70Ba | Major heat shock 70 kDa protein Ba | Drosophila melanogaster (Fruit fly) | SS |
| Q9BIR7 | Hsp70Bc | Major heat shock 70 kDa protein Bc | Drosophila melanogaster (Fruit fly) | SS |
| Q9BIS2 | Hsp70Bb | Major heat shock 70 kDa protein Bb | Drosophila melanogaster (Fruit fly) | SS |
| O97125 | Hsp68 | Heat shock protein 68 | Drosophila melanogaster (Fruit fly) | SS |
| P11146 | Hsc70-2 | Heat shock 70 kDa protein cognate 2 | Drosophila melanogaster (Fruit fly) | SS |
| Q9VG58 | Hsp70Bbb | Major heat shock 70 kDa protein Bbb | Drosophila melanogaster (Fruit fly) | SS |
| Q96MM6 | HSPA12B | Heat shock 70 kDa protein 12B | Homo sapiens (Human) | PR |
| O43301 | HSPA12A | Heat shock 70 kDa protein 12A | Homo sapiens (Human) | PR |
| P0DMV9 | HSPA1B | Heat shock 70 kDa protein 1B | Homo sapiens (Human) | SS |
| P0DMV8 | HSPA1A | Heat shock 70 kDa protein 1A | Homo sapiens (Human) | SS |
| P34931 | HSPA1L | Heat shock 70 kDa protein 1-like | Homo sapiens (Human) | SS |
| P54652 | HSPA2 | Heat shock-related 70 kDa protein 2 | Homo sapiens (Human) | SS |
| Q0VDF9 | HSPA14 | Heat shock 70 kDa protein 14 | Homo sapiens (Human) | SS |
| P38646 | HSPA9 | Stress-70 protein, mitochondrial | Homo sapiens (Human) | SS |
| P11021 | HSPA5 | Endoplasmic reticulum chaperone BiP | Homo sapiens (Human) | SS |
| P11142 | HSPA8 | Heat shock cognate 71 kDa protein | Homo sapiens (Human) | EV |
| P48741 | HSPA7 | Putative heat shock 70 kDa protein 7 | Homo sapiens (Human) | SS |
| P11143 | HSP70 | Heat shock 70 kDa protein | Zea mays (Maize) | SS |
| P16627 | Hspa1l | Heat shock 70 kDa protein 1-like | Mus musculus (Mouse) | SS |
| P63017 | Hspa8 | Heat shock cognate 71 kDa protein | Mus musculus (Mouse) | SS |
| Q99M31 | Hspa14 | Heat shock 70 kDa protein 14 | Mus musculus (Mouse) | SS |
| Q8K0U4 | Hspa12a | Heat shock 70 kDa protein 12A | Mus musculus (Mouse) | PR |
| P17156 | Hspa2 | Heat shock-related 70 kDa protein 2 | Mus musculus (Mouse) | SS |
| Q61696 | Hspa1a | Heat shock 70 kDa protein 1A | Mus musculus (Mouse) | SS |
| Q9CZJ2 | Hspa12b | Heat shock 70 kDa protein 12B | Mus musculus (Mouse) | PR |
| P17879 | Hspa1b | Heat shock 70 kDa protein 1B | Mus musculus (Mouse) | SS |
| Q6S4N2 | HSPA1B | Heat shock 70 kDa protein 1B | Sus scrofa (Pig) | SS |
| P14659 | Hspa2 | Heat shock-related 70 kDa protein 2 | Rattus norvegicus (Rat) | SS |
| P0DMW1 | Hspa1b | Heat shock 70 kDa protein 1B | Rattus norvegicus (Rat) | SS |
| P0DMW0 | Hspa1a | Heat shock 70 kDa protein 1A | Rattus norvegicus (Rat) | SS |
| P63018 | Hspa8 | Heat shock cognate 71 kDa protein | Rattus norvegicus (Rat) | SS |
| P55063 | Hspa1l | Heat shock 70 kDa protein 1-like | Rattus norvegicus (Rat) | SS |
| P09446 | hsp-1 | Heat shock protein hsp-1 | Caenorhabditis elegans | SS |
| P26413 | HSP70 | Heat shock 70 kDa protein | Glycine max (Soybean) (Glycine hispida) | SS |
| O65719 | HSP70-3 | Heat shock 70 kDa protein 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P22954 | HSP70-2 | Heat shock 70 kDa protein 2 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9C7X7 | HSP70-18 | Heat shock 70 kDa protein 18 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LHA8 | HSP70-4 | Heat shock 70 kDa protein 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9S9N1 | HSP70-5 | Heat shock 70 kDa protein 5 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P22953 | HSP70-1 | Heat shock 70 kDa protein 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P24629 | HSC-I | Heat shock cognate 70 kDa protein 1 | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | SS |
| P27322 | HSC-2 | Heat shock cognate 70 kDa protein 2 | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | SS |
| Q5RGE6 | hspa14 | Heat shock 70 kDa protein 14 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q90473 | hspa8 | Heat shock cognate 71 kDa protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQAPRELAVG | IDLGTTYSCV | GVFQQGRVEI | LANDQGNRTT | PSYVAFTDTE | RLVGDAAKSQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AALNPHNTVF | DAKRLIGRKF | ADTTVQSDMK | HWPFRVVSEG | GKPKVRVCYR | GEDKTFYPEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ISSMVLSKMK | ETAEAYLGQP | VKHAVITVPA | YFNDSQRQAT | KDAGAIAGLN | VLRIINEPTA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AAIAYGLDRR | GAGERNVLIF | DLGGGTFDVS | VLSIDAGVFE | VKATAGDTHL | GGEDFDNRLV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NHFMEEFRRK | HGKDLSGNKR | ALRRLRTACE | RAKRTLSSST | QATLEIDSLF | EGVDFYTSIT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RARFEELCSD | LFRSTLEPVE | KALRDAKLDK | AQIHDVVLVG | GSTRIPKVQK | LLQDFFNGKE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LNKSINPDEA | VAYGAAVQAA | VLMGDKCEKV | QDLLLLDVAP | LSLGLETAGG | VMTTLIQRNA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TIPTKQTQTF | TTYSDNQPGV | FIQVYEGERA | MTKDNNLLGR | FELSGIPPAP | RGVPQIEVTF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DIDANGILSV | TATDRSTGKA | NKITITNDKG | RLSKEEVERM | VHEAEQYKAE | DEAQRDRVAA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KNSLEAHVFH | VKGSLQEESL | RDKIPEEDRR | KMQDKCREVL | AWLEHNQLAE | KEEYEHQKRE |
| 610 | 620 | 630 | 640 | ||
| LEQICRPIFS | RLYGGPGVPG | GSSCGTQARQ | GDPSTGPIIE | EVD |