P54652
SS
Gene name |
HSPA2 |
Protein name |
Heat shock-related 70 kDa protein 2 |
Names |
Heat shock 70 kDa protein 2 , Heat shock protein family A member 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3306 |
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 |
228-265 (Nucleolar targeting region) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
563 variants for P54652
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs2080022896 | 2 | S>A | No | TOPMed | |
| rs940645745 | 2 | S>F | No | TOPMed | |
| rs138216816 | 3 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs375274677 | 4 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs375274677 | 4 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs763109794 | 4 | R>H | No |
ExAC gnomAD |
|
| rs1288662892 | 5 | G>S | No |
TOPMed gnomAD |
|
| rs1216853222 | 6 | P>A | No | gnomAD | |
| rs2140203675 | 6 | P>R | No | Ensembl | |
| rs751675059 | 7 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs2080023230 | 8 | I>V | No | Ensembl | |
| rs1172600894 | 9 | G>V | No | Ensembl | |
| rs142961470 | 10 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs17853550 | 14 | T>P | No | Ensembl | |
| rs2080023430 | 15 | T>S | No | Ensembl | |
| COSM433247 | 18 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2080023583 | 19 | V>A | No | TOPMed | |
| rs1014753639 | 20 | G>E | No | TOPMed | |
| rs1240457172 | 20 | G>R | No | TOPMed | |
| rs1447624557 | 21 | V>F | No |
TOPMed gnomAD |
|
| rs1596713329 | 22 | F>C | No | Ensembl | |
| rs755955718 | 22 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs777394462 | 24 | H>N | No |
ExAC TOPMed gnomAD |
|
| rs1241664585 | 24 | H>R | No |
TOPMed gnomAD |
|
| rs1446868162 | 25 | G>D | No | gnomAD | |
| rs749010447 | 26 | K>E | No |
ExAC gnomAD |
|
| rs756909705 | 26 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs2140203760 | 29 | I>V | No | Ensembl | |
| rs1596713370 | 31 | A>P | No | Ensembl | |
| COSM1370575 | 31 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1596713376 | 33 | D>E | No | Ensembl | |
| rs1234957613 | 34 | Q>E | No | TOPMed | |
| rs978749239 | 36 | N>S | No | Ensembl | |
| rs1346509010 | 37 | R>H | No | gnomAD | |
| rs1596713392 | 38 | T>P | No | Ensembl | |
|
COSM6141126 COSM1515982 rs769000751 |
38 | T>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated ExAC TOPMed gnomAD NCI-TCGA Cosmic |
| rs1596713401 | 39 | T>P | No | Ensembl | |
| rs1268309419 | 40 | P>R | No |
TOPMed gnomAD |
|
| rs1596713406 | 41 | S>C | No | Ensembl | |
| rs1596713415 | 41 | S>R | No | Ensembl | |
| rs1596713411 | 41 | S>T | No | Ensembl | |
| rs1336044368 | 44 | A>T | No | gnomAD | |
| rs11551977 | 44 | A>V | No | Ensembl | |
| rs1566642600 | 46 | T>A | No | Ensembl | |
| rs1403857158 | 47 | D>E | No |
TOPMed gnomAD |
|
| rs1596713438 | 48 | T>P | No | Ensembl | |
| rs1315485021 | 50 | R>L | No |
TOPMed gnomAD |
|
| rs1596713443 | 52 | I>V | No | Ensembl | |
| rs748500695 | 53 | G>C | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773563426 | 55 | A>S | No |
ExAC TOPMed gnomAD |
|
| COSM1370576 | 55 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs201797824 COSM1370577 |
56 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
| rs934309617 | 57 | K>Q | No |
TOPMed gnomAD |
|
| rs774257042 | 57 | K>R | No |
ExAC gnomAD |
|
| rs1596713467 | 58 | N>T | No | Ensembl | |
| rs1232728192 | 59 | Q>* | No | gnomAD | |
| rs2080025229 | 60 | V>E | No | Ensembl | |
| rs1480097657 | 60 | V>M | No | gnomAD | |
| rs767336310 | 61 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs767336310 | 61 | A>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs140108798 | 62 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs957540010 | 64 | P>L | No |
TOPMed gnomAD |
|
| rs1033239232 | 64 | P>S | No |
TOPMed gnomAD |
|
| COSM1285441 | 65 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1409927732 | 65 | T>P | No | TOPMed | |
| rs1596713500 | 65 | T>S | No | Ensembl | |
| rs1566642638 | 67 | T>I | No | Ensembl | |
| rs753649397 | 68 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1596713515 | 68 | I>V | No | Ensembl | |
| TCGA novel | 70 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1719137502 | 70 | D>Y | No | Ensembl | |
| rs756808874 | 71 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs750396992 | 72 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2080025872 | 74 | L>M | No | TOPMed | |
| TCGA novel | 77 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1596713541 | 79 | F>Y | No | Ensembl | |
| rs1596713549 | 80 | E>D | No | Ensembl | |
| rs17853552 | 80 | E>G | No | Ensembl | |
| TCGA novel | 82 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1351373431 | 83 | T>A | No | gnomAD | |
| TCGA novel | 86 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs11551980 | 87 | D>G | No | Ensembl | |
| rs2080026304 | 88 | M>T | No | Ensembl | |
| rs1210602643 | 88 | M>V | No |
TOPMed gnomAD |
|
| TCGA novel | 90 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2080026332 | 92 | P>L | No | TOPMed | |
| rs11551981 | 94 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs748729664 | 94 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1596713583 | 95 | V>G | No | Ensembl | |
| rs1596713587 | 96 | V>G | No | Ensembl | |
| rs2080026540 | 96 | V>L | No | gnomAD | |
| rs2080026596 | 97 | S>R | No |
TOPMed gnomAD |
|
| rs778235354 | 98 | E>K | No |
ExAC gnomAD |
|
| rs1424440508 | 99 | G>E | No | gnomAD | |
| rs907021625 | 99 | G>R | No | gnomAD | |
| rs2080026705 | 101 | K>E | No | TOPMed | |
| rs749702487 | 102 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs749702487 | 102 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs532039356 | 106 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs532039356 | 106 | V>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs774682874 | 106 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs774682874 | 106 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs772263852 | 107 | E>A | No |
ExAC gnomAD |
|
| rs775555327 | 110 | G>E | No |
ExAC gnomAD |
|
| rs143579986 | 111 | E>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 111 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs143579986 | 111 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs565494428 | 112 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs565494428 | 112 | T>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2080027116 | 113 | K>N | No | Ensembl | |
| rs750148346 | 114 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs750148346 | 114 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs751125737 | 115 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs368025873 | 117 | P>A | No |
ESP ExAC |
|
| rs2080027332 | 120 | I>T | No | TOPMed | |
| rs749594516 | 121 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs200552841 | 124 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2080027455 | 125 | L>V | No | Ensembl | |
| rs1216633059 | 126 | T>M | No | gnomAD | |
| rs1274154414 | 127 | K>N | No | gnomAD | |
| rs2080027599 | 130 | E>A | No | TOPMed | |
| rs746039652 | 130 | E>K | No |
ExAC gnomAD |
|
| rs1258541931 | 131 | I>F | No |
TOPMed gnomAD |
|
| rs772199703 | 131 | I>T | No |
ExAC gnomAD |
|
| rs775502313 | 132 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1743529 rs775502313 |
132 | A>V | biliary_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs2080027735 | 134 | A>S | No |
TOPMed gnomAD |
|
| rs747119450 | 135 | Y>H | No |
ExAC gnomAD |
|
| rs375630421 | 136 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| COSM295332 | 138 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs936957029 | 138 | G>D | No |
TOPMed gnomAD |
|
| rs936957029 | 138 | G>V | No |
TOPMed gnomAD |
|
| rs368396780 | 141 | H>Q | No |
ESP TOPMed gnomAD |
|
| rs772887443 | 141 | H>Y | No |
ExAC gnomAD |
|
| TCGA novel | 142 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762607721 | 142 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1313063349 | 144 | V>A | No |
TOPMed gnomAD |
|
| rs751084786 | 145 | I>L | No |
ExAC gnomAD |
|
| rs2080028382 | 150 | Y>N | No | Ensembl | |
| rs1417497964 | 152 | N>D | No | Ensembl | |
| rs1826204208 | 152 | N>S | No | TOPMed | |
| rs1458025150 | 154 | S>* | No | gnomAD | |
| rs998827823 | 154 | S>A | No | gnomAD | |
| rs998827823 | 154 | S>T | No | gnomAD | |
| rs1458025150 | 154 | S>W | No | gnomAD | |
| rs2080028635 | 155 | Q>E | No | Ensembl | |
| rs779282172 | 157 | Q>H | No |
ExAC gnomAD |
|
| TCGA novel | 158 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2080028737 | 158 | A>V | No |
TOPMed gnomAD |
|
| rs1358057386 | 161 | D>E | No | gnomAD | |
| rs1223448304 | 162 | A>S | No |
TOPMed gnomAD |
|
| rs1223448304 | 162 | A>T | No |
TOPMed gnomAD |
|
| rs2080028889 | 163 | G>C | No | Ensembl | |
| rs1054448161 | 164 | T>I | No |
TOPMed gnomAD |
|
| rs1054448161 | 164 | T>N | No |
TOPMed gnomAD |
|
| rs1301965939 | 164 | T>P | No | Ensembl | |
| rs1301965939 | 164 | T>S | No | Ensembl | |
| rs1054448161 | 164 | T>S | No |
TOPMed gnomAD |
|
| rs1216312653 | 166 | T>A | No | gnomAD | |
| COSM957020 | 166 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1209859523 | 168 | L>F | No | gnomAD | |
| rs1269006614 | 169 | N>D | No | gnomAD | |
| TCGA novel | 169 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs45462598 | 169 | N>K | No |
1000Genomes ESP ExAC gnomAD |
|
| rs377254266 | 169 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs377254266 | 169 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1160372875 | 171 | L>Q | No |
TOPMed gnomAD |
|
| rs1400915451 | 171 | L>V | No | gnomAD | |
| COSM3690156 | 172 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4829249 | 172 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1278557274 | 173 | I>L | No | Ensembl | |
| rs145441361 | 173 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1423304912 | 174 | I>L | No | gnomAD | |
| rs1423304912 | 174 | I>V | No | gnomAD | |
| rs1305436768 | 176 | E>Q | No | gnomAD | |
| rs776544454 | 178 | T>M | No |
ExAC gnomAD |
|
| rs2140204219 | 180 | A>S | No | Ensembl | |
| TCGA novel | 181 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1382958298 | 182 | I>L | No | gnomAD | |
| rs1356948055 | 182 | I>M | No | gnomAD | |
| COSM698975 | 183 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1402929655 | 184 | Y>F | No | gnomAD | |
| rs1213520335 | 187 | D>N | No | TOPMed | |
| rs766109956 | 190 | G>C | No |
ExAC gnomAD |
|
| rs2080030306 | 191 | C>* | No | TOPMed | |
|
rs45456191 VAR_032706 |
191 | C>S | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2140204262 | 192 | A>E | No | Ensembl | |
|
rs2140204262 COSM393906 |
192 | A>V | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs139509655 | 193 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs576446580 | 193 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1347967531 | 194 | G>V | No | gnomAD | |
| rs1268631519 | 195 | E>* | No | gnomAD | |
| rs796223185 | 195 | E>A | No | Ensembl | |
| rs752166393 | 196 | K>N | No |
ExAC TOPMed gnomAD |
|
| COSM3987739 | 202 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1353840309 | 202 | D>Y | No | TOPMed | |
| TCGA novel | 209 | D>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1425176299 | 212 | I>V | No |
TOPMed gnomAD |
|
| rs1170728986 | 214 | T>N | No | Ensembl | |
| rs2140204329 | 214 | T>P | No | Ensembl | |
| rs748519012 | 215 | I>M | No | gnomAD | |
| rs772605956 | 217 | D>E | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2140204354 | 219 | I>M | No | Ensembl | |
| rs2080031061 | 219 | I>V | No | TOPMed | |
| TCGA novel | 221 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2140204364 | 224 | S>A | No | Ensembl | |
| rs755197084 | 225 | T>M | No |
ExAC gnomAD |
|
| rs2140204372 | 226 | A>D | No | Ensembl | |
| rs2080031260 | 226 | A>T | No | Ensembl | |
| rs748197495 | 227 | G>S | No |
ExAC gnomAD |
|
| rs1063391 | 228 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1006921524 | 228 | D>N | No | Ensembl | |
| COSM6141124 | 228 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1194602247 | 229 | T>N | No | TOPMed | |
| rs1194602247 | 229 | T>S | No | TOPMed | |
| rs1259229728 | 230 | H>L | No | Ensembl | |
| rs1481879875 | 230 | H>Y | No | Ensembl | |
| rs1596714012 | 234 | E>D | No | Ensembl | |
| rs1295416166 | 238 | N>H | No | TOPMed | |
| rs1221674223 | 238 | N>S | No |
TOPMed gnomAD |
|
| rs1340859172 | 239 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs777622120 | 239 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs2140204423 | 240 | M>I | No | Ensembl | |
| rs770879322 | 240 | M>R | No | Ensembl | |
| rs2080032004 | 241 | V>M | No | Ensembl | |
| rs749082019 | 243 | H>R | No |
ExAC gnomAD |
|
| rs770917203 | 245 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1182909944 | 247 | E>A | No | gnomAD | |
| rs1268360248 | 247 | E>D | No | gnomAD | |
| rs759211114 | 247 | E>K | No |
ExAC gnomAD |
|
| rs2080032234 | 248 | F>L | No | gnomAD | |
| rs1479737621 | 250 | R>C | No | gnomAD | |
| rs565901627 | 250 | R>L | No |
1000Genomes ExAC gnomAD |
|
| rs1031171415 | 252 | H>Q | No |
TOPMed gnomAD |
|
| rs1378747243 | 252 | H>Y | No | gnomAD | |
| rs1431319643 | 255 | D>E | No | gnomAD | |
| rs765750287 | 255 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs760140113 | 255 | D>Y | No |
ExAC gnomAD |
|
| rs750945321 | 256 | I>T | No |
ExAC gnomAD |
|
| rs1045863061 | 257 | G>A | No |
TOPMed gnomAD |
|
| rs1045863061 | 257 | G>E | No |
TOPMed gnomAD |
|
| rs1165823775 | 258 | P>L | No |
TOPMed gnomAD |
|
| rs2080032547 | 259 | N>I | No | Ensembl | |
| rs2080032605 | 260 | K>Q | No | TOPMed | |
| TCGA novel | 261 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1370580 | 262 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 264 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs142168882 | 266 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1291087508 | 267 | R>C | No | gnomAD | |
| TCGA novel | 267 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1566642959 | 268 | T>P | No | Ensembl | |
| rs1596714120 | 269 | A>S | No | Ensembl | |
| COSM3419963 | 269 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM266684 rs1566642974 |
271 | E>K | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2140204534 | 272 | R>H | No | Ensembl | |
| rs1596714163 | 276 | T>P | No | Ensembl | |
| rs1596714163 | 276 | T>S | No | Ensembl | |
| rs2080033446 | 277 | L>Q | No | TOPMed | |
| rs1596714170 | 278 | S>C | No | Ensembl | |
| rs1350173736 | 278 | S>N | No |
TOPMed gnomAD |
|
| rs1350173736 | 278 | S>T | No |
TOPMed gnomAD |
|
| rs556598060 | 280 | S>Y | No |
1000Genomes ExAC gnomAD |
|
| rs2080033636 | 281 | T>K | No | TOPMed | |
| rs938461284 | 284 | S>C | No | Ensembl | |
| rs2140204571 | 284 | S>I | No | Ensembl | |
| rs760216827 | 285 | I>M | No |
ExAC gnomAD |
|
| TCGA novel | 286 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs553568437 | 288 | D>Y | No | gnomAD | |
| COSM3886208 | 289 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1314584626 | 289 | S>T | No | gnomAD | |
| rs1391283956 | 291 | Y>C | No |
TOPMed gnomAD |
|
| rs1381647559 | 293 | G>S | No | gnomAD | |
| rs1293166304 | 293 | G>V | No | gnomAD | |
| rs776206047 | 294 | V>M | No |
ExAC gnomAD |
|
| rs763391875 | 297 | Y>N | No |
ExAC TOPMed gnomAD |
|
| rs370673877 | 298 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs370673877 | 298 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs759932367 | 301 | T>R | No |
ExAC gnomAD |
|
| TCGA novel | 303 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774557850 COSM4051815 |
304 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs774557850 | 304 | R>G | No | gnomAD | |
| rs1183391062 | 304 | R>H | No |
TOPMed gnomAD |
|
| rs2080034414 | 305 | F>L | No | TOPMed | |
| rs1384159734 | 306 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs867759126 | 307 | E>K | No | Ensembl | |
| rs2080034628 | 312 | L>P | No | Ensembl | |
| rs745633674 | 314 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs745633674 | 314 | R>G | No |
ExAC gnomAD |
|
| rs758182171 | 314 | R>P | No |
ExAC gnomAD |
|
|
rs1008319552 COSM1370583 |
315 | G>R | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs768366957 | 316 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs746572568 | 316 | T>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1338742017 | 318 | E>D | No | gnomAD | |
| rs146018194 | 318 | E>Q | No |
ESP TOPMed |
|
| rs931174625 | 319 | P>L | No | gnomAD | |
| rs931174625 | 319 | P>R | No | gnomAD | |
| rs1313501393 | 319 | P>T | No |
TOPMed gnomAD |
|
| rs771395783 | 322 | K>E | No |
ExAC gnomAD |
|
| rs1027330886 | 322 | K>T | No |
TOPMed gnomAD |
|
| rs1241758510 | 323 | A>E | No | gnomAD | |
| TCGA novel | 325 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 325 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2080035192 | 325 | R>L | No | TOPMed | |
| rs767708796 | 331 | K>M | No |
ExAC gnomAD |
|
| rs1156330536 | 334 | I>M | No | gnomAD | |
| rs760762597 | 339 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2080035494 | 340 | V>L | No | TOPMed | |
| rs764410231 | 343 | S>P | No |
ExAC gnomAD |
|
| rs139125746 | 344 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2080035673 | 345 | R>S | No | Ensembl | |
| rs750448439 | 347 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs750448439 | 347 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs765249545 | 347 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs200804884 | 349 | I>M | No |
1000Genomes ExAC gnomAD |
|
| rs2080035839 | 350 | Q>H | No | gnomAD | |
| rs1361596175 | 350 | Q>R | No |
TOPMed gnomAD |
|
| rs199900449 | 352 | L>V | No |
1000Genomes ExAC gnomAD |
|
| COSM698974 | 354 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2080035925 | 355 | D>G | No | Ensembl | |
| rs2080036004 | 358 | N>H | No | gnomAD | |
| rs560610106 | 358 | N>I | No |
1000Genomes ExAC gnomAD |
|
| rs1427929597 | 358 | N>K | No |
TOPMed gnomAD |
|
| rs560610106 | 358 | N>S | No |
1000Genomes ExAC gnomAD |
|
| rs1173659226 | 359 | G>R | No | TOPMed | |
| rs2080036137 | 360 | K>N | No | TOPMed | |
| rs747634703 | 361 | E>K | No |
ExAC TOPMed gnomAD |
|
| COSM3793787 | 361 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769361604 | 362 | L>M | No |
ExAC gnomAD |
|
| rs1179374792 | 362 | L>P | No | gnomAD | |
| rs772715438 | 364 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1366407955 | 365 | S>G | No | Ensembl | |
| rs2080036347 | 365 | S>T | No | Ensembl | |
| rs1310201093 | 367 | N>I | No |
TOPMed gnomAD |
|
| rs1310201093 | 367 | N>S | No |
TOPMed gnomAD |
|
| rs1310201093 | 367 | N>T | No |
TOPMed gnomAD |
|
| TCGA novel | 370 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1415920821 | 370 | E>G | No | gnomAD | |
| rs761146611 | 373 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs761146611 | 373 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs764393195 | 374 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs764393195 | 374 | Y>S | No |
ExAC TOPMed gnomAD |
|
| COSM1678062 | 375 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs868182185 | 375 | G>S | No | Ensembl | |
| rs773680911 | 376 | A>S | No | Ensembl | |
| COSM957026 | 376 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2080036855 | 376 | A>V | No | TOPMed | |
| rs1429399274 | 377 | A>S | No | Ensembl | |
| COSM1678063 | 377 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1596714377 | 378 | V>G | No | Ensembl | |
| rs2140204822 | 379 | Q>L | No | Ensembl | |
| TCGA novel | 380 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2140204825 | 381 | A>G | No | Ensembl | |
| rs1220122749 | 381 | A>T | No | gnomAD | |
| rs2140204832 | 382 | I>V | No | Ensembl | |
| rs1566643122 | 383 | L>P | No | Ensembl | |
| rs758218792 | 385 | G>S | No |
ExAC gnomAD |
|
| rs766369303 | 386 | D>E | No |
ExAC TOPMed gnomAD |
|
| COSM1493320 | 388 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1596714406 | 388 | S>T | No | Ensembl | |
| COSM957027 | 389 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2080037257 | 389 | E>K | No | gnomAD | |
| rs1596714412 | 391 | V>G | No | Ensembl | |
| rs2140204857 | 392 | Q>K | No | Ensembl | |
| rs562960207 | 393 | D>G | No |
1000Genomes ExAC gnomAD |
|
| rs754850371 | 394 | L>V | No |
1000Genomes ExAC gnomAD |
|
| rs113552509 | 395 | L>Q | No | Ensembl | |
| rs1421782182 | 397 | L>I | No | gnomAD | |
| COSM1477687 | 398 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1678064 | 399 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1191541258 | 400 | T>I | No | gnomAD | |
| rs1191541258 | 400 | T>N | No | gnomAD | |
| rs1447851502 | 401 | P>L | No | gnomAD | |
| rs1371421206 | 403 | S>L | No | gnomAD | |
| rs144384722 | 404 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
|
rs969625689 COSM117821 |
407 | E>K | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs2080038080 | 409 | A>P | No | Ensembl | |
| rs780664331 | 411 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs928321880 | 415 | P>Q | No | Ensembl | |
| rs1596714469 | 415 | P>T | No | Ensembl | |
| rs1269949998 | 417 | I>L | No | gnomAD | |
| rs1363528662 | 417 | I>T | No | gnomAD | |
| rs747324899 | 418 | K>E | No |
ExAC gnomAD |
|
| rs1256042998 | 419 | R>K | No | Ensembl | |
| rs1299307702 | 419 | R>S | No | gnomAD | |
| rs1244383130 | 422 | T>A | No | gnomAD | |
| COSM698973 | 424 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1221012351 | 425 | T>I | No | gnomAD | |
| rs769205905 | 427 | Q>* | No |
ExAC gnomAD |
|
| rs777136298 | 430 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs552473024 | 430 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1241279306 | 432 | T>I | No | gnomAD | |
| rs2080038763 | 432 | T>S | No | Ensembl | |
| rs2080038794 | 434 | Y>S | No | Ensembl | |
| rs186643980 | 435 | S>T | No | 1000Genomes | |
| rs972500498 | 436 | D>Y | No | Ensembl | |
| rs2080038903 | 441 | V>I | No | Ensembl | |
| rs1307160135 | 442 | L>V | No | Ensembl | |
| rs200634473 | 444 | Q>E | No |
1000Genomes ExAC gnomAD |
|
| rs2080039012 | 446 | Y>D | No | Ensembl | |
| TCGA novel | 450 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1161533955 | 452 | M>K | No | gnomAD | |
| rs766204605 | 452 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs1161533955 | 452 | M>T | No | gnomAD | |
| rs2080039150 | 453 | T>I | No | gnomAD | |
| rs751570901 | 454 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs111281457 | 456 | N>S | No | TOPMed | |
| TCGA novel | 457 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1442164060 | 459 | L>P | No | TOPMed | |
| rs1955526694 | 460 | G>A | No | Ensembl | |
| rs993212121 | 465 | T>A | No | gnomAD | |
| rs993212121 | 465 | T>S | No | gnomAD | |
| rs560661084 | 466 | G>E | No | gnomAD | |
| rs1758913667 | 466 | G>R | No | gnomAD | |
| rs1393738665 | 467 | I>L | No |
TOPMed gnomAD |
|
| rs1387130489 | 467 | I>T | No | gnomAD | |
| rs2080039453 | 468 | P>L | No |
TOPMed gnomAD |
|
|
COSM4847456 rs1437641293 |
468 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
COSM23328 rs767242911 |
469 | P>S | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs200951589 | 470 | A>E | No | Ensembl | |
| rs2080039577 | 471 | P>L | No | Ensembl | |
| rs1365456925 | 471 | P>S | No | gnomAD | |
| rs755726266 | 476 | Q>H | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 477 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1323109393 | 477 | I>V | No |
TOPMed gnomAD |
|
| rs777445473 | 481 | F>C | No |
ExAC gnomAD |
|
| rs753270156 | 481 | F>L | No |
ExAC TOPMed gnomAD |
|
| COSM1300758 | 482 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1248490615 | 483 | I>M | No | gnomAD | |
| rs756852956 | 483 | I>T | No |
ExAC gnomAD |
|
| COSM5848339 | 485 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1185752847 | 486 | N>S | No | gnomAD | |
| COSM4405980 | 486 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1596714605 | 492 | T>P | No | Ensembl | |
| rs769297658 | 493 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1440183570 | 494 | A>V | No | Ensembl | |
| rs202207348 | 495 | D>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1251874092 | 495 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs45447398 VAR_032707 |
496 | K>E | No |
UniProt Ensembl dbSNP |
|
| rs1596714618 | 497 | S>G | No | Ensembl | |
| rs770107690 | 500 | K>E | No |
ExAC gnomAD |
|
| rs1395066251 | 500 | K>R | No | gnomAD | |
| rs762927698 | 503 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2080040344 | 504 | I>L | No | gnomAD | |
| rs1448033062 | 506 | I>V | No | gnomAD | |
| rs2080040447 | 510 | K>Q | No | TOPMed | |
| rs774308215 | 512 | R>G | No |
ExAC gnomAD |
|
| rs1230198308 | 512 | R>P | No | gnomAD | |
| rs1214545494 | 513 | L>Q | No | TOPMed | |
| rs1343973305 | 514 | S>G | No | gnomAD | |
| rs375115167 | 516 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1223785423 | 517 | D>G | No | gnomAD | |
| rs2080040784 | 518 | I>T | No | TOPMed | |
| rs867605397 | 518 | I>V | No | TOPMed | |
| rs369473748 | 521 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1596714674 | 522 | V>G | No | Ensembl | |
| COSM957029 | 522 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs146374519 | 523 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs756861833 | 524 | E>D | No |
ExAC gnomAD |
|
| TCGA novel | 525 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1368390623 | 526 | E>K | No | TOPMed | |
| rs200575249 | 527 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs200575249 | 527 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1596714699 | 528 | Y>D | No | Ensembl | |
| rs781774342 | 529 | K>R | No | ExAC | |
| rs556559367 | 530 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs372954597 | 530 | S>T | No |
ESP ExAC gnomAD |
|
| rs139711462 | 533 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs749469619 | 533 | E>Q | No |
ExAC gnomAD |
|
| rs1288867679 | 534 | A>E | No | gnomAD | |
| rs1288867679 | 534 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2080041411 | 536 | R>C | No | TOPMed | |
| rs576414293 | 536 | R>H | No |
1000Genomes ExAC gnomAD |
|
| rs375156060 | 538 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs775467719 | 538 | R>L | No |
ExAC gnomAD |
|
| rs2080041584 | 539 | V>A | No | Ensembl | |
| rs1204752378 | 539 | V>F | No |
TOPMed gnomAD |
|
| rs1204752378 | 539 | V>L | No |
TOPMed gnomAD |
|
| COSM1370586 | 540 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763879452 | 541 | A>T | No |
ExAC gnomAD |
|
| rs1205992106 | 542 | K>R | No |
TOPMed gnomAD |
|
| rs1431956977 | 544 | A>D | No |
TOPMed gnomAD |
|
| rs776299096 | 544 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs776299096 | 544 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs985886722 | 548 | Y>C | No | TOPMed | |
| rs1378619994 | 548 | Y>H | No | gnomAD | |
| rs11551976 | 551 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1478140640 | 551 | N>T | No | gnomAD | |
| rs559245797 | 552 | I>F | No |
1000Genomes ExAC gnomAD |
|
| rs758029974 | 552 | I>S | No |
ExAC gnomAD |
|
| rs1389909173 | 555 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2140205343 | 557 | E>K | No | Ensembl | |
| rs1035713463 | 558 | D>Y | No | Ensembl | |
| rs1331516939 | 559 | E>G | No | gnomAD | |
| rs2080042137 | 563 | G>S | No | TOPMed | |
| rs959716514 | 564 | K>T | No | gnomAD | |
| rs541181720 | 565 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs778150993 | 569 | D>H | No |
ExAC gnomAD |
|
| rs2080042231 | 570 | K>E | No | Ensembl | |
| rs144431919 | 570 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1294887836 | 572 | K>N | No | TOPMed | |
| rs2140205359 | 572 | K>T | No | Ensembl | |
| rs149891536 | 574 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs149891536 | 574 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs772209687 | 577 | C>Y | No |
ExAC gnomAD |
|
| rs1387874798 | 580 | V>L | No |
TOPMed gnomAD |
|
| rs1387874798 | 580 | V>M | No |
TOPMed gnomAD |
|
| rs187804076 | 582 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs768496108 | 583 | W>R | No |
ExAC TOPMed gnomAD |
|
| rs769464133 | 585 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs769464133 | 585 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs563116596 | 586 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1433999761 | 588 | Q>H | No | gnomAD | |
| rs762547744 | 589 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs887547289 | 589 | M>V | No | TOPMed | |
|
COSM4816722 rs765920858 |
591 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs751137625 | 593 | D>V | No |
ExAC gnomAD |
|
| rs2140205397 | 594 | E>A | No | Ensembl | |
| rs1423961088 | 594 | E>K | No |
TOPMed gnomAD |
|
| rs2080042637 | 596 | E>D | No |
TOPMed gnomAD |
|
| rs764549711 | 598 | K>* | No |
ExAC gnomAD |
|
|
rs142308248 COSM1370588 |
598 | K>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs142308248 | 598 | K>T | No |
ESP ExAC TOPMed gnomAD |
|
| COSM3497044 | 600 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757623927 | 603 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1347292983 | 603 | E>G | No | gnomAD | |
| rs1368422235 | 603 | E>K | No | Ensembl | |
| rs2080042853 | 607 | N>I | No | Ensembl | |
| rs750582212 | 607 | N>K | No |
ExAC gnomAD |
|
| rs532179417 | 607 | N>Y | No |
1000Genomes ExAC gnomAD |
|
| rs1186793289 | 609 | I>N | No | gnomAD | |
| rs942545111 | 611 | S>G | No | gnomAD | |
| rs780055592 | 613 | L>P | No |
ExAC gnomAD |
|
| rs1418412242 | 615 | Q>K | No | gnomAD | |
| rs747087541 | 615 | Q>R | No |
ExAC gnomAD |
|
| rs1763863713 | 617 | G>D | No | Ensembl | |
| COSM3987740 | 618 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1483843067 | 619 | G>S | No | TOPMed | |
| rs1390628958 | 620 | G>C | No | gnomAD | |
| COSM4051821 | 620 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1390628958 | 620 | G>R | No | gnomAD | |
| rs377519695 | 621 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1566643513 COSM957031 |
622 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1339675504 | 623 | G>D | No |
TOPMed gnomAD |
|
| rs1302446310 | 624 | G>C | No | gnomAD | |
| rs1302446310 | 624 | G>S | No | gnomAD | |
| TCGA novel | 625 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773145998 | 626 | G>S | No |
ExAC gnomAD |
|
| rs2080043502 | 629 | A>D | No | gnomAD | |
| rs1227133579 | 630 | S>A | No | gnomAD | |
| rs773968555 | 631 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs770739442 | 631 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs759019504 | 632 | G>E | No |
ExAC gnomAD |
|
| rs1254979247 | 632 | G>R | No |
TOPMed gnomAD |
|
| TCGA novel | 632 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs935332359 | 634 | T>N | No |
TOPMed gnomAD |
|
| rs764651409 | 635 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1257682239 | 636 | E>D | No | gnomAD | |
| rs559557337 | 638 | V>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2140205524 | 638 | V>M | No | Ensembl | |
| TCGA novel | 639 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P54652
3 regional properties for P54652
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Heat shock protein 70, conserved site | 10 - 17 | IPR018181-1 |
| conserved_site | Heat shock protein 70, conserved site | 200 - 213 | IPR018181-2 |
| conserved_site | Heat shock protein 70, conserved site | 337 - 351 | IPR018181-3 |
12 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. |
| CatSper complex | A sperm-specific voltage-gated calcium channel that controls the intracellular calcium ion concentration and, thereby, the swimming behavior of sperm. Consists of a heteromeric tetramer surrounding a calcium ion- selective pore. May also contain additional auxiliary subunits. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| 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. |
| male germ cell nucleus | The nucleus of a male germ cell, a reproductive cell in males. |
| meiotic spindle | A spindle that forms as part of meiosis. Several proteins, such as budding yeast Spo21p, fission yeast Spo2 and Spo13, and C. elegans mei-1, localize specifically to the meiotic spindle and are absent from the mitotic spindle. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| 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. |
| synaptonemal complex | A proteinaceous scaffold found between homologous chromosomes during meiosis. It consists of 2 lateral elements and a central element, all running parallel to each other. Transverse filaments connect the lateral elements to the central element. |
11 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. |
| disordered domain specific binding | Binding to a disordered domain of a protein. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| glycolipid binding | Binding to a glycolipid, any compound containing one or more monosaccharide residues bound by a glycosidic linkage to a hydrophobic group such as an acylglycerol, a sphingoid, a ceramide (N-acylsphingoid) or a prenyl phosphate. |
| 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. |
| protein-folding chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
| unfolded protein binding | Binding to an unfolded protein. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| male meiosis I | A cell cycle process comprising the steps by which a cell progresses through male meiosis I, the first meiotic division in the male germline. |
| male meiotic nuclear division | A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline. |
| negative regulation of inclusion body assembly | Any process that decreases the rate, frequency, or extent of inclusion body assembly. Inclusion body assembly is the aggregation, arrangement and bonding together of a set of components to form an inclusion body. |
| positive regulation of G2/M transition of mitotic cell cycle | Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the mitotic cell cycle. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| 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 cold | 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 cold stimulus, a temperature stimulus below the optimal temperature for that organism. |
| 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 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. |
| spermatid development | The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| synaptonemal complex disassembly | The controlled breakdown of a synaptonemal complex. |
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 |
| P17066 | HSPA6 | Heat shock 70 kDa protein 6 | Homo sapiens (Human) | SS |
| P34931 | HSPA1L | Heat shock 70 kDa protein 1-like | 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 |
| 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 |
| P17156 | Hspa2 | Heat shock-related 70 kDa protein 2 | Mus musculus (Mouse) | SS |
| Q6S4N2 | HSPA1B | Heat shock 70 kDa protein 1B | Sus scrofa (Pig) | 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 |
| P14659 | Hspa2 | Heat shock-related 70 kDa protein 2 | 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 |
| MSARGPAIGI | DLGTTYSCVG | VFQHGKVEII | ANDQGNRTTP | SYVAFTDTER | LIGDAAKNQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AMNPTNTIFD | AKRLIGRKFE | DATVQSDMKH | WPFRVVSEGG | KPKVQVEYKG | ETKTFFPEEI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSMVLTKMKE | IAEAYLGGKV | HSAVITVPAY | FNDSQRQATK | DAGTITGLNV | LRIINEPTAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AIAYGLDKKG | CAGGEKNVLI | FDLGGGTFDV | SILTIEDGIF | EVKSTAGDTH | LGGEDFDNRM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VSHLAEEFKR | KHKKDIGPNK | RAVRRLRTAC | ERAKRTLSSS | TQASIEIDSL | YEGVDFYTSI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TRARFEELNA | DLFRGTLEPV | EKALRDAKLD | KGQIQEIVLV | GGSTRIPKIQ | KLLQDFFNGK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ELNKSINPDE | AVAYGAAVQA | AILIGDKSEN | VQDLLLLDVT | PLSLGIETAG | GVMTPLIKRN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TTIPTKQTQT | FTTYSDNQSS | VLVQVYEGER | AMTKDNNLLG | KFDLTGIPPA | PRGVPQIEVT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FDIDANGILN | VTAADKSTGK | ENKITITNDK | GRLSKDDIDR | MVQEAERYKS | EDEANRDRVA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AKNALESYTY | NIKQTVEDEK | LRGKISEQDK | NKILDKCQEV | INWLDRNQMA | EKDEYEHKQK |
| 610 | 620 | 630 | |||
| ELERVCNPII | SKLYQGGPGG | GSGGGGSGAS | GGPTIEEVD |