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 P34931

Entry ID Method Resolution Chain Position Source
3GDQ X-ray 180 A A 1-386 PDB
AF-P34931-F1 Predicted AlphaFoldDB

704 variants for P34931

Variant ID(s) Position Change Description Diseaes Association Provenance
CA136890474
RCV001782884
rs368138379
77 G>S Inflammatory bowel disease 1 [ClinVar] Yes ClinGen
ClinVar
ESP
TOPMed
dbSNP
gnomAD
RCV001782885
rs750447828
CA3724060
172 L>missing Inflammatory bowel disease 1 [ClinVar] Yes ClinGen
ClinVar
dbSNP
CA3724008
RCV001782883
rs139868987
267 T>I Inflammatory bowel disease 1 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
VAR_025842
RCV001782882
CA3724007
RCV003430979
rs34620296
268 A>T Inflammatory bowel disease 1 [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000856580
rs2227956
493 T>K Chronic obstructive pulmonary disease [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3723860
RCV001692092
rs2227955
RCV001782881
VAR_025845
558 E>A Inflammatory bowel disease 1 [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1815457330 2 A>P No TOPMed
rs140839023 3 T>A No ESP
rs147186823 4 A>D No ESP
ExAC
TOPMed
gnomAD
rs372378700 4 A>T No ESP
ExAC
gnomAD
rs768906825 5 K>N No ExAC
gnomAD
rs749753182 6 G>* No ExAC
gnomAD
rs1815455712 6 G>V No Ensembl
VAR_025841
rs9469057
8 A>P No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs9469057 8 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 8 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs139193421 9 I>M No ESP
ExAC
TOPMed
gnomAD
rs780700552 9 I>T No ExAC
TOPMed
gnomAD
rs151059204 9 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs777589589 10 G>S No ExAC
gnomAD
rs1265682797 12 D>H No TOPMed
gnomAD
COSM1077719
rs1265682797
12 D>N Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1265682797 12 D>Y No TOPMed
gnomAD
COSM3861839 13 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752662698 14 G>D No ExAC
TOPMed
gnomAD
rs765307007 17 Y>* No ExAC
gnomAD
rs1007813910 18 S>C No TOPMed
gnomAD
rs1562343316 18 S>P No Ensembl
rs760834707 19 C>R No ExAC
TOPMed
gnomAD
rs1815451496 20 V>A No gnomAD
rs1815451168 21 G>R No TOPMed
rs1222321552 22 V>L No gnomAD
rs1222321552 22 V>M No gnomAD
rs1419211674 23 F>L No Ensembl
rs1279739765 23 F>S No TOPMed
gnomAD
rs373638266 24 Q>* No gnomAD
rs1463437168 24 Q>P No TOPMed
gnomAD
rs1815449275 25 H>D No TOPMed
rs369425515 25 H>Q No ESP
ExAC
TOPMed
gnomAD
COSM3861838
rs762027845
25 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs763355013 26 G>S No ExAC
TOPMed
gnomAD
rs1357313252 27 K>N No gnomAD
rs1323695286 28 V>G No gnomAD
rs1461206739 30 I>T No TOPMed
rs1298381462 31 I>V No TOPMed
rs745365008 32 A>P No ExAC
TOPMed
gnomAD
rs745365008
COSM1443376
32 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201814236 33 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1183924388 34 D>E No gnomAD
rs746628579 34 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs746628579 34 D>Y No ExAC
TOPMed
gnomAD
rs777342418 35 Q>* No ExAC
gnomAD
rs1815446097 35 Q>R No TOPMed
rs1255972636 36 G>A No TOPMed
gnomAD
rs1255972636 36 G>D No TOPMed
gnomAD
rs1815445696 37 N>T No TOPMed
rs530017660 38 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs530017660 38 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs373639301 38 R>H No ESP
ExAC
TOPMed
gnomAD
rs150810052 39 T>A No ESP
ExAC
TOPMed
gnomAD
rs150810052 39 T>P No ESP
ExAC
TOPMed
gnomAD
COSM483875
rs753725330
40 T>I kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753725330 40 T>N No ExAC
TOPMed
gnomAD
rs753725330 40 T>S No ExAC
TOPMed
gnomAD
rs767593530 41 P>S No ExAC
gnomAD
rs1562343047 42 S>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs757305369 43 Y>F No ExAC
gnomAD
rs189710538 44 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs762535261 45 A>T No Ensembl
rs763297872 47 T>I No ExAC
TOPMed
gnomAD
rs763297872 47 T>R No ExAC
TOPMed
gnomAD
rs1000603059 50 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs903617843 51 R>Q No TOPMed
rs760051391
COSM3346986
51 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1172905951 52 L>P No TOPMed
gnomAD
rs141349016 53 I>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1582677
rs141349016
53 I>T stomach [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1179879737 54 G>R No gnomAD
rs1459435022 54 G>V No gnomAD
TCGA novel 55 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs757351933 56 A>V No ExAC
TOPMed
gnomAD
rs771910474 57 A>G No ExAC
TOPMed
gnomAD
rs772996658 57 A>S No ExAC
gnomAD
TCGA novel 58 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772862216 59 N>K No gnomAD
rs1815440069 61 V>I No TOPMed
rs1314037039 62 A>T No gnomAD
rs754849874 63 M>I No ExAC
gnomAD
rs778784868 63 M>V No ExAC
TOPMed
gnomAD
TCGA novel 64 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs749200537 64 N>S No ExAC
TOPMed
gnomAD
rs1815438987 65 P>H No Ensembl
rs1815438987
TCGA novel
65 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1456569884 66 Q>H No gnomAD
rs1295575618 66 Q>R No gnomAD
rs757327606 67 N>D No ExAC
TOPMed
gnomAD
rs1159555371 67 N>S No gnomAD
rs751654845 68 T>A No ExAC
TOPMed
gnomAD
rs764284547 69 V>G No ExAC
gnomAD
TCGA novel 70 F>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1815437133 71 D>G No Ensembl
rs1815436574 73 K>N No Ensembl
rs1211282132 73 K>Q No gnomAD
rs145946517 74 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371434396 74 R>H No ESP
ExAC
TOPMed
gnomAD
rs962754902 76 I>F No Ensembl
rs1581697066 78 R>S No Ensembl
rs759870563 79 K>E No ExAC
gnomAD
TCGA novel 79 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM281785 79 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1213659188 81 N>H No TOPMed
gnomAD
rs1355558679 83 P>L No gnomAD
rs1307041606 84 V>A No TOPMed
gnomAD
rs777167633 85 V>E No ExAC
TOPMed
gnomAD
rs1461322233 85 V>I No gnomAD
rs766866292 86 Q>* No ExAC
gnomAD
rs766866292 86 Q>K No ExAC
gnomAD
rs772792188 87 A>E No ExAC
gnomAD
rs760220858 87 A>S No ExAC
gnomAD
rs1452233259 88 D>V No TOPMed
gnomAD
rs1365145150 91 L>F No gnomAD
rs199562102 93 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1815429822 93 P>S No gnomAD
rs1359025519 94 F>S No gnomAD
rs1158559661 97 I>V No gnomAD
COSM1546241 99 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1815428490 100 G>E No Ensembl
rs774168279 100 G>R No ExAC
gnomAD
rs768475218 101 G>S No ExAC
TOPMed
gnomAD
rs749076420 102 K>M No ExAC
gnomAD
rs749076420 102 K>T No ExAC
gnomAD
rs375770555 103 P>S No Ensembl
TCGA novel 106 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1815427757 106 L>P No TOPMed
rs985952759 107 V>G No TOPMed
gnomAD
rs1815427576 107 V>M No TOPMed
TCGA novel 108 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769675691 109 Y>* No ExAC
TOPMed
gnomAD
rs1022132419 109 Y>C No TOPMed
rs368011012 110 K>E No ESP
ExAC
TOPMed
gnomAD
rs1230308618 111 G>R No gnomAD
COSM4391239
rs1815425901
112 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1815425714 113 N>S No Ensembl
rs1344564634 115 A>V No TOPMed
rs1345541682 117 Y>C No TOPMed
gnomAD
rs758498452 117 Y>H No ExAC
TOPMed
gnomAD
rs1339887302 118 P>L No gnomAD
COSM4923860 119 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM394318
rs1030228955
123 S>L lung Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs142437638 124 M>I No ESP
ExAC
TOPMed
gnomAD
rs755368492 127 T>S No ExAC
gnomAD
rs1402066769 129 L>M No TOPMed
gnomAD
rs1402066769 129 L>V No TOPMed
gnomAD
rs1815422724 131 E>D No Ensembl
rs1562342507 132 T>I No Ensembl
rs1222171982 133 A>T No TOPMed
gnomAD
rs754215438 135 A>D No ExAC
gnomAD
rs1815421772 136 F>S No gnomAD
rs1815421033 139 H>Y No TOPMed
rs1404919179 140 P>A No gnomAD
rs1815420090 142 T>I No gnomAD
rs761456778 144 A>V No ExAC
rs1194003547 146 I>F No gnomAD
rs747651249 147 T>I No TOPMed
rs1815418138 148 V>A No gnomAD
rs768259019 148 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3861834 149 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762791790 150 A>P No ExAC
TOPMed
gnomAD
rs201394277 150 A>V No 1000Genomes
rs1280708557 153 N>K No TOPMed
gnomAD
rs775085801 153 N>S No ExAC
TOPMed
gnomAD
rs765590853 154 D>E No ExAC
gnomAD
rs1046010671 156 Q>L No TOPMed
rs202165632 157 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs772111227 157 R>H No ExAC
TOPMed
gnomAD
rs202165632 157 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1337651485 158 Q>R No TOPMed
gnomAD
rs1815415131 159 A>P No TOPMed
rs1161195438 161 K>E No TOPMed
rs779186102 161 K>N No ExAC
gnomAD
rs564894041 162 D>Y No ExAC
gnomAD
rs1392095004 163 A>E No TOPMed
TCGA novel 163 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1392095004 163 A>V No TOPMed
rs916118865 164 G>D No TOPMed
gnomAD
rs764022454 165 V>G No gnomAD
rs754094690 165 V>M No ExAC
TOPMed
gnomAD
rs780242965 166 I>T No ExAC
gnomAD
rs145104527 167 A>D No ESP
TOPMed
rs145104527 167 A>V No ESP
TOPMed
rs1815412147 168 G>E No TOPMed
gnomAD
rs149204208 170 N>K No ExAC
TOPMed
gnomAD
rs1815411883 170 N>S No TOPMed
gnomAD
rs1815411883 170 N>T No TOPMed
gnomAD
rs1473025198 172 L>R No gnomAD
rs1440265955 174 I>S No TOPMed
rs761403757 176 N>S No ExAC
TOPMed
gnomAD
rs768176285 176 N>Y No ExAC
gnomAD
rs777178387 177 E>K No TOPMed
rs777178387 177 E>Q No TOPMed
COSM1329799 178 P>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1815408864 178 P>S No TOPMed
rs138274398 179 T>M No ESP
ExAC
TOPMed
gnomAD
rs1313297132 180 A>G No TOPMed
gnomAD
rs1179576532 183 I>T No gnomAD
rs769126652 183 I>V No TOPMed
rs764922859 185 Y>C No ExAC
TOPMed
gnomAD
rs571006499 185 Y>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1815406315 187 L>V No Ensembl
rs1448410696 188 D>H No gnomAD
rs747436894 189 K>R No TOPMed
gnomAD
rs776550285
COSM3702978
190 G>A liver [Cosmic] No cosmic curated
ExAC
gnomAD
TCGA novel 192 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1405533450 193 G>E No gnomAD
COSM3624803 193 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 194 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 194 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs770917469 195 R>* No ExAC
TOPMed
gnomAD
rs201198988
RCV000970452
195 R>Q No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs768814318 196 H>Q No ExAC
TOPMed
gnomAD
rs774228634 196 H>R No ExAC
gnomAD
rs1180401356 199 I>V No gnomAD
rs373875697 201 D>Y No ESP
ExAC
TOPMed
gnomAD
rs1815403798 202 L>V No TOPMed
rs1815402944 204 G>E No Ensembl
rs1232357390 204 G>R No TOPMed
gnomAD
rs1165445231 205 G>D No TOPMed
gnomAD
rs780372000 206 T>A No ExAC
TOPMed
gnomAD
rs1581696153 206 T>I No Ensembl
rs756514211 207 F>L No ExAC
TOPMed
gnomAD
rs1290081406 208 D>N No gnomAD
rs1222147845 208 D>V No gnomAD
rs757776898 209 V>G No ExAC
gnomAD
rs781761072 209 V>L No ExAC
TOPMed
gnomAD
rs781761072 209 V>M No ExAC
TOPMed
gnomAD
rs1370561662 211 I>T No gnomAD
rs1815400485 211 I>V No Ensembl
rs752112742 212 L>P No ExAC
gnomAD
rs1815399309 213 T>I No Ensembl
rs1815399515 213 T>P No TOPMed
rs762890249 214 I>T No TOPMed
gnomAD
COSM3624802
rs1581696037
215 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1815397862 216 D>G No TOPMed
TCGA novel 219 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1300880929 220 E>* No gnomAD
rs150472288 221 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752264409 224 T>S No ExAC
gnomAD
rs2151461615 227 D>Y No 1000Genomes
rs548569388 229 H>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1815394487 229 H>Q No Ensembl
rs759317010 230 L>P No ExAC
gnomAD
rs759317010 230 L>R No ExAC
gnomAD
rs371447094 231 G>S No ExAC
TOPMed
gnomAD
rs773226597 235 F>I No 1000Genomes
ExAC
TOPMed
gnomAD
COSM6173933 236 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs768598138 237 N>S No ExAC
gnomAD
rs2151461569 238 R>S No Ensembl
rs191859553 238 R>T No 1000Genomes
COSM1443369 239 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2151461558 240 V>A No 1000Genomes
rs1281058142 240 V>L No gnomAD
rs1403940171
COSM1294289
241 S>N cervix [Cosmic] No cosmic curated
TOPMed
gnomAD
rs775568758 241 S>R No ExAC
gnomAD
rs1234410625 242 H>L No TOPMed
gnomAD
rs1355403980 242 H>Y No TOPMed
gnomAD
rs1290344128 243 F>V No gnomAD
rs147868862 244 V>L No ESP
ExAC
TOPMed
gnomAD
rs147868862 244 V>M No ESP
ExAC
TOPMed
gnomAD
rs781631922 245 E>K No ExAC
gnomAD
COSM71107 246 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs911295867 248 K>Q No Ensembl
COSM3921399
rs1271868470
249 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs747422784 251 H>Q No ExAC
TOPMed
gnomAD
rs1815389384 252 K>Q No gnomAD
TCGA novel 253 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1815388792 254 D>N No TOPMed
gnomAD
rs1815388422 255 I>M No TOPMed
COSM4911785 255 I>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1815388243 256 S>G No TOPMed
rs200543237 257 Q>P No ESP
ExAC
TOPMed
gnomAD
rs757844713 259 K>R No ExAC
gnomAD
rs764743827 260 R>* No ExAC
TOPMed
gnomAD
rs764743827 260 R>G No ExAC
TOPMed
gnomAD
rs199646393 260 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199646393 260 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 262 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM185487
rs142416335
262 V>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1568415 263 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs750295996 264 R>Q No ExAC
TOPMed
gnomAD
rs760512895 264 R>W No ExAC
TOPMed
gnomAD
rs199532053 266 R>C No ESP
ExAC
TOPMed
gnomAD
rs775580678 266 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs775580678 266 R>L No ExAC
TOPMed
gnomAD
rs769994484 267 T>A No ExAC
TOPMed
gnomAD
rs142613640 270 E>K No ESP
ExAC
TOPMed
gnomAD
rs148442705 272 A>V No ESP
ExAC
TOPMed
gnomAD
rs1184127823 273 K>E No gnomAD
rs1408091890 276 L>P No gnomAD
COSM3624799
rs1460318497
277 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs748610630 278 S>C No ExAC
TOPMed
gnomAD
rs986208345 279 S>G No TOPMed
COSM2157007 281 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1815381952 282 A>G No Ensembl
rs754506860 283 N>D No ExAC
TOPMed
gnomAD
rs1815381417 283 N>K No Ensembl
rs1581695526
COSM387641
283 N>S lung [Cosmic] No cosmic curated
Ensembl
rs952995140 285 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1306759439 286 I>T No TOPMed
gnomAD
rs1250671657 286 I>V No TOPMed
gnomAD
rs779724006 287 D>Y No ExAC
gnomAD
rs187074836 289 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs187074836 289 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs767230108 292 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs989377237 292 G>S No TOPMed
gnomAD
rs1489375367 293 I>V No TOPMed
gnomAD
VAR_025843
rs34360259
294 D>G No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1296725819 295 F>S No gnomAD
rs1435433434 295 F>V No TOPMed
gnomAD
rs1461620456 297 T>I No TOPMed
gnomAD
rs1815377085 299 I>F No Ensembl
rs1382132987 301 R>K No TOPMed
rs1815376598 301 R>S No Ensembl
TCGA novel 301 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765356075 302 A>D No ExAC
TOPMed
gnomAD
rs765356075 302 A>G No ExAC
TOPMed
gnomAD
rs1815376213 303 R>* No TOPMed
rs1385211232
COSM4940390
303 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1815375694 306 E>D No Ensembl
rs368299209 308 C>Y No gnomAD
rs1193728135 309 A>T No TOPMed
gnomAD
rs1480067363 309 A>V No gnomAD
rs546676852 310 D>H No ExAC
TOPMed
gnomAD
rs1815373824 312 F>C No Ensembl
rs1356972985 313 R>K No gnomAD
rs941324389 314 G>C No TOPMed
gnomAD
rs1240769641 314 G>D No gnomAD
rs773562809 317 E>K No ExAC
rs748640312 319 V>I No ExAC
TOPMed
gnomAD
rs1815372685 320 E>G No gnomAD
rs1581695219 321 K>N No Ensembl
rs779447554 322 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM300531
rs768126334
322 A>V Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1365331743 323 L>R No gnomAD
rs142398035 324 R>Q No ESP
ExAC
TOPMed
gnomAD
rs779666881
COSM4514337
324 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1178988304 325 D>G No TOPMed
gnomAD
rs750047577 325 D>H No ExAC
TOPMed
gnomAD
rs750047577 325 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs780995765 326 A>G No ExAC
TOPMed
gnomAD
COSM3624797 328 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1815370271 329 D>G No TOPMed
rs976294956 329 D>H No gnomAD
rs976294956 329 D>N No gnomAD
rs757021527 330 K>E No ExAC
TOPMed
gnomAD
rs1369822811 331 A>G No TOPMed
gnomAD
rs1369822811 331 A>V No TOPMed
gnomAD
rs1815369718 334 H>N No TOPMed
gnomAD
rs1290691195 335 D>G No gnomAD
rs772366553 335 D>N No TOPMed
gnomAD
rs764164396 336 I>T No ExAC
gnomAD
rs751517866 336 I>V No ExAC
gnomAD
rs1259058990 338 L>F No TOPMed
gnomAD
rs1302824566 339 V>A No TOPMed
gnomAD
rs1314611285 341 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs755098112 341 G>R No ExAC
gnomAD
rs755098112 341 G>S No ExAC
gnomAD
rs1314611285 341 G>V No TOPMed
gnomAD
rs1815367947 342 S>A No gnomAD
rs1261254929 342 S>F No TOPMed
gnomAD
rs1581694965 343 T>I No Ensembl
rs1581694965 343 T>N No Ensembl
rs544557163 344 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs544557163 344 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs375290879
COSM4752165
344 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
NCI-TCGA
TOPMed
gnomAD
rs375290879 344 R>P No ESP
TOPMed
gnomAD
rs1345287525 345 I>V No gnomAD
rs1384450016 346 P>L No gnomAD
rs760914999 347 K>R No ExAC
TOPMed
gnomAD
rs760914999 347 K>T No ExAC
TOPMed
gnomAD
rs547752581 349 Q>E No Ensembl
rs1815365518 349 Q>R No Ensembl
rs923849656 350 R>Q No gnomAD
rs1429370855 350 R>W No TOPMed
gnomAD
rs773329064 351 L>P No ExAC
gnomAD
rs762126324 352 L>V No ExAC
gnomAD
rs1259619117 354 D>G No gnomAD
rs1815363921 356 F>L No Ensembl
rs181670945 357 N>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs529670905 359 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1036938945 359 R>H No gnomAD
rs1815362432 360 D>V No TOPMed
rs967686617 362 N>K No TOPMed
gnomAD
rs944858395 363 K>Q No TOPMed
gnomAD
rs911644560 363 K>R No TOPMed
gnomAD
rs1460288819 364 S>N No TOPMed
gnomAD
rs1406184281 367 P>A No TOPMed
gnomAD
rs1338085795 368 D>E No TOPMed
gnomAD
rs137935258 368 D>Y No ESP
ExAC
TOPMed
gnomAD
rs1428221917 370 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1815359486 374 G>R No Ensembl
TCGA novel 375 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1461660496 376 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1815358424 378 Q>* No TOPMed
rs757043144 378 Q>H No ExAC
gnomAD
rs746861272 380 A>P No ExAC
gnomAD
rs1216535612 381 I>T No gnomAD
rs1486169523 383 M>T No TOPMed
gnomAD
rs1269911192 383 M>V No gnomAD
rs146199357 384 G>R No ESP
ExAC
TOPMed
gnomAD
rs1815356457 386 K>E No TOPMed
gnomAD
rs141209981 388 E>A No ESP
ExAC
TOPMed
gnomAD
rs1449880562 388 E>D No gnomAD
COSM1294273
rs766434444
389 K>N cervix [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs756198272 390 V>I No ExAC
TOPMed
gnomAD
rs756198272 390 V>L No ExAC
TOPMed
gnomAD
rs1292518532
COSM3413928
391 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1292518532 391 Q>E No TOPMed
gnomAD
rs1815354632 396 L>R No TOPMed
rs1815354262 397 D>G No TOPMed
gnomAD
rs139384991 398 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139384991 398 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1480405141 399 A>T No Ensembl
rs555125949 399 A>V No 1000Genomes
ExAC
gnomAD
rs1267735516 400 P>L No gnomAD
rs1815353072 400 P>S No TOPMed
rs1815353072 400 P>T No TOPMed
rs1234258051 402 S>C No gnomAD
TCGA novel 402 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs372714721 404 G>E No ESP
TOPMed
gnomAD
rs566332175 407 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs776340641 408 A>T No ExAC
TOPMed
gnomAD
COSM4929396
rs1815350523
409 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs770435641 410 G>D No ExAC
gnomAD
rs1245863225 410 G>S No gnomAD
rs777675880 411 V>M No ExAC
TOPMed
gnomAD
rs758295721 412 M>K No ExAC
TOPMed
gnomAD
rs1412918753 412 M>V No TOPMed
rs17857014 416 I>M No ExAC
TOPMed
gnomAD
rs778757324 417 K>* No ExAC
gnomAD
rs756216078 418 R>C No ExAC
gnomAD
COSM3783977
rs1815348063
418 R>H Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1161610466 419 N>S No gnomAD
rs1161610466 419 N>T No gnomAD
rs2151460728 421 T>I No Ensembl
rs1408852268 423 P>S No gnomAD
rs1815347135 424 T>A No Ensembl
COSM3928341 424 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1178976039 425 K>R No gnomAD
rs1387287493 428 Q>E No gnomAD
rs1815345987 430 F>S No Ensembl
rs367836600 431 T>I No ESP
ExAC
TOPMed
gnomAD
rs367836600 431 T>N No ESP
ExAC
TOPMed
gnomAD
rs1222406248 432 T>A No gnomAD
rs1815345131 433 Y>F No gnomAD
rs757403494 435 D>E No ExAC
gnomAD
rs1172737962 435 D>V No gnomAD
rs1307180997 437 Q>* No TOPMed
rs1307180997 437 Q>K No TOPMed
rs751809556 438 P>R No ExAC
gnomAD
rs571792102 439 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
COSM6039506 440 V>C Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201161706 440 V>L No ExAC
TOPMed
gnomAD
rs201161706 440 V>M No ExAC
TOPMed
gnomAD
rs1345768587 441 L>P No gnomAD
rs1161166376 442 I>N No gnomAD
TCGA novel 443 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1177431221 444 V>M No gnomAD
COSM4927775 445 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4691344
rs770600264
448 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs760358503 449 R>K No ExAC
TOPMed
gnomAD
rs1815340853 450 A>T No TOPMed
rs1244372817 451 M>T No TOPMed
gnomAD
rs1815340154 455 N>D No TOPMed
rs773048128 455 N>I No ExAC
TOPMed
gnomAD
rs773048128 455 N>S No ExAC
TOPMed
gnomAD
rs773048128 455 N>T No ExAC
TOPMed
gnomAD
rs771963411 458 L>P No ExAC
gnomAD
rs898088646 459 G>E No TOPMed
gnomAD
rs748024336 459 G>R No ExAC
gnomAD
rs147667814 460 R>P No ESP
ExAC
TOPMed
gnomAD
rs147667814 460 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1815338743 460 R>W No TOPMed
rs1815338209 462 D>E No TOPMed
rs1432329964
COSM1294259
464 T>S cervix [Cosmic] No cosmic curated
TOPMed
gnomAD
TCGA novel
rs1815337716
465 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1815337547 467 P>R No TOPMed
rs1387998646 470 P>S No gnomAD
rs1391933409 471 R>G No TOPMed
gnomAD
rs749251656 472 G>E No ExAC
gnomAD
rs781091208 473 V>F No ExAC
gnomAD
rs778008112 477 E>K No ExAC
TOPMed
gnomAD
rs778008112 477 E>Q No ExAC
TOPMed
gnomAD
rs758754760 477 E>V No ExAC
gnomAD
rs1201212729 478 V>A No TOPMed
gnomAD
rs482145
VAR_025844
RCV000965703
479 T>M No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1485804840 480 F>L No gnomAD
rs1815334415 481 D>V No gnomAD
rs754395053 482 I>V No ExAC
TOPMed
gnomAD
rs1300116883 483 D>G No Ensembl
TCGA novel 483 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs548364201 484 A>G No gnomAD
rs548364201 484 A>V No gnomAD
rs1815333272 485 N>H No TOPMed
gnomAD
rs765970026 485 N>S No ExAC
TOPMed
gnomAD
rs1815332675 488 L>F No Ensembl
rs1815332675 488 L>I No Ensembl
rs1212762938 488 L>P No gnomAD
rs773948561 489 N>S No ExAC
TOPMed
gnomAD
rs1343407673 491 T>K No gnomAD
rs1815331520 491 T>S No TOPMed
rs1356674722 492 A>D No gnomAD
rs780016316 493 T>A No ExAC
TOPMed
gnomAD
VAR_003820
rs2227956
493 T>M No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2227956 493 T>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1443364 494 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
RCV000929873
rs576268420
495 K>missing No ClinVar
dbSNP
rs972516481 495 K>E No Ensembl
rs1815329333 496 S>G No TOPMed
rs2151460279 496 S>T No Ensembl
rs758555654 498 G>C No ExAC
TOPMed
gnomAD
rs1240661889 498 G>D No gnomAD
rs758555654 498 G>S No ExAC
TOPMed
gnomAD
rs1240661889 498 G>V No gnomAD
rs2151460244 499 K>Q No Ensembl
rs748435926 499 K>R No ExAC
gnomAD
rs1202244137 500 V>A No gnomAD
rs1202244137 500 V>E No gnomAD
rs1252877703 500 V>M No gnomAD
rs1815327696 503 I>S No Ensembl
rs755419733 504 T>A No ExAC
gnomAD
rs1815326932 505 I>M No TOPMed
rs200301187 505 I>V No 1000Genomes
gnomAD
rs17853300 506 T>A No Ensembl
rs934950628 506 T>N No TOPMed
rs754272971 507 N>D No ExAC
gnomAD
rs767063723 508 D>H No ExAC
gnomAD
rs1562339863 508 D>V No Ensembl
rs1375867687 509 K>E No gnomAD
rs755676343 509 K>N No ExAC
TOPMed
gnomAD
COSM3624796 510 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs148694457 511 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs767137456 511 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs148694457 511 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1166029147 513 S>T No gnomAD
rs1028585381 514 K>N No gnomAD
rs998578135 515 E>D No gnomAD
rs761329208 516 E>D No ExAC
gnomAD
COSM3346939 516 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs111279147 517 I>M No 1000Genomes
ExAC
gnomAD
rs774072389 517 I>T No ExAC
gnomAD
rs139969031 519 R>C No ESP
ExAC
TOPMed
gnomAD
COSM5870208
rs775401949
519 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769779342 520 M>V No ExAC
gnomAD
rs745816477 521 V>I No ExAC
TOPMed
gnomAD
rs1815322318 522 L>M No TOPMed
rs1581693313 522 L>Q No Ensembl
rs1581693306 523 D>E No Ensembl
rs1815321850 524 A>S No Ensembl
rs544006150 524 A>V No 1000Genomes
ExAC
gnomAD
rs1815321328 525 E>K No Ensembl
rs1305206605 527 Y>C No TOPMed
gnomAD
rs1318813778 527 Y>H No TOPMed
gnomAD
rs1815320500 528 K>E No TOPMed
gnomAD
rs1409382230 528 K>R No gnomAD
rs1409382230 528 K>T No gnomAD
rs779235392 529 A>G No ExAC
gnomAD
rs755297837 530 E>K No ExAC
gnomAD
COSM4830030 531 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1466886931 532 E>D No TOPMed
gnomAD
COSM4529208 532 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1815319551 533 V>F No TOPMed
gnomAD
rs1815319261 534 Q>H No Ensembl
rs1403657550 534 Q>R No gnomAD
COSM741851 535 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201132627 536 E>K No 1000Genomes
gnomAD
rs201132627 536 E>Q No 1000Genomes
gnomAD
rs1246847723 538 I>M No TOPMed
gnomAD
rs982029613 538 I>T No TOPMed
gnomAD
rs998930397 540 A>S No Ensembl
rs554869938 540 A>V No 1000Genomes
ExAC
gnomAD
COSM1077705 541 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780581828 544 L>* No ExAC
TOPMed
gnomAD
TCGA novel 545 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs756624684 546 S>C No ExAC
gnomAD
rs756624684 546 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs146531367 547 Y>C No ESP
ExAC
TOPMed
gnomAD
rs146531367 547 Y>F No ESP
ExAC
TOPMed
gnomAD
rs1156514355 547 Y>H No gnomAD
rs146402090
COSM238588
548 A>D prostate [Cosmic] No cosmic curated
TOPMed
gnomAD
rs146402090 548 A>G No TOPMed
gnomAD
rs1429767841 548 A>P No gnomAD
rs146402090
COSM109759
548 A>V skin [Cosmic] No cosmic curated
TOPMed
gnomAD
rs111462391 550 N>S No gnomAD
rs1391977656 551 M>I No TOPMed
gnomAD
rs1161163512 551 M>T No TOPMed
TCGA novel 552 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1815315620 557 D>E No Ensembl
TCGA novel 557 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs566393477 558 E>D No 1000Genomes
ExAC
gnomAD
rs756836668 558 E>K No ExAC
TOPMed
gnomAD
rs762641185 559 G>D No ExAC
gnomAD
rs1324473563 560 L>M No TOPMed
gnomAD
rs1815314165 563 K>N No Ensembl
rs765019123 563 K>R No ExAC
gnomAD
rs1815313739 566 E>D No TOPMed
rs199974706 566 E>G No Ensembl
rs1351762990 567 S>F No gnomAD
rs567637853
RCV000895789
568 D>* No ClinVar
dbSNP
rs1815313426 569 K>* No Ensembl
rs1440150593 569 K>T No Ensembl
rs939012192 573 L>S No TOPMed
gnomAD
TCGA novel 573 L>W Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs939012192 573 L>W No TOPMed
gnomAD
rs759422957 574 D>G No ExAC
TOPMed
gnomAD
rs1230738576 576 C>F No TOPMed
rs776599600 576 C>G No ExAC
gnomAD
rs1815311550 577 N>D No Ensembl
rs748331299 577 N>K No ExAC
TOPMed
gnomAD
rs772013963 577 N>S No ExAC
TOPMed
gnomAD
rs772013963 577 N>T No ExAC
TOPMed
gnomAD
rs554479408 578 E>D No 1000Genomes
ExAC
gnomAD
rs139052456 578 E>K No ESP
ExAC
TOPMed
gnomAD
COSM1487613 578 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1815310364 580 L>V No TOPMed
rs1815310214 581 S>A No Ensembl
rs371717441
COSM1443362
581 S>L Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1208238536 582 W>* No gnomAD
rs1815309511 582 W>* No TOPMed
rs1208238536 582 W>C No gnomAD
rs1246285394 582 W>G No gnomAD
TCGA novel 582 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781740332 584 E>G No ExAC
gnomAD
rs756717103 585 V>G No ExAC
gnomAD
rs144451142 586 N>S No ESP
ExAC
TOPMed
gnomAD
rs1184253837 587 Q>H No TOPMed
gnomAD
rs1815308532 587 Q>K No TOPMed
rs1271096786 587 Q>P No gnomAD
rs1271096786 587 Q>R No gnomAD
rs1230290569 590 E>K No gnomAD
rs777160535 592 D>A No ExAC
gnomAD
rs758000575 592 D>E No ExAC
TOPMed
gnomAD
rs202033031 592 D>Y No TOPMed
gnomAD
rs61751215 593 E>D No ESP
ExAC
gnomAD
rs1338315015 594 F>C No gnomAD
rs1338315015 594 F>S No gnomAD
rs1815306532 595 D>H No Ensembl
COSM1312019 595 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 597 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1285348321 597 K>N No gnomAD
rs1815306223 597 K>Q No Ensembl
rs1412339351 597 K>R No gnomAD
rs1408402334 598 R>* No TOPMed
gnomAD
rs201332987 598 R>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201332987 598 R>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1815304909 599 K>N No TOPMed
rs1338256513 599 K>R No TOPMed
gnomAD
COSM6106560 602 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2075800
VAR_025846
602 E>K No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs954264438 604 M>I No TOPMed
gnomAD
rs1388289260 604 M>V No gnomAD
rs371226757 605 C>F No ESP
ExAC
TOPMed
gnomAD
rs371226757 605 C>S No ESP
ExAC
TOPMed
gnomAD
rs371226757 605 C>Y No ESP
ExAC
TOPMed
gnomAD
rs774425727 606 N>K No ExAC
gnomAD
COSM6106561 607 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1311612034 608 I>V No TOPMed
gnomAD
rs1815303471 609 I>V No Ensembl
rs768651596 611 K>Q No ExAC
gnomAD
rs1009138682 613 Y>* No TOPMed
gnomAD
rs1581692670 613 Y>H No Ensembl
COSM4405560 614 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs377450492 615 G>R No ESP
ExAC
gnomAD
rs1815302492 617 C>R No TOPMed
COSM6173934 619 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3624794 620 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1212406436 620 P>L No Ensembl
rs1358090171 620 P>S No TOPMed
COSM269333 621 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1815301119 623 G>A No TOPMed
gnomAD
rs746297288
COSM294455
623 G>R lung large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs771411091 625 G>A No ExAC
rs771411091 625 G>V No ExAC
rs777296245 626 Y>C No ExAC
TOPMed
gnomAD
rs777296245 626 Y>F No ExAC
TOPMed
gnomAD
rs1815299623 627 V>A No Ensembl
rs2151459665 628 P>R No Ensembl
rs1411517785 630 R>K No TOPMed
gnomAD
rs757954206 630 R>S No ExAC
gnomAD
rs202159508 631 P>T No ESP
ExAC
TOPMed
gnomAD
rs1387186082 632 A>D No TOPMed
gnomAD
rs1387186082 632 A>V No TOPMed
gnomAD
rs1431714253 633 T>A No TOPMed
gnomAD
rs1815297915 633 T>I No TOPMed
gnomAD
rs1021677888 634 G>S No Ensembl
rs1815297439 635 P>H No TOPMed
gnomAD
TCGA novel 636 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2151459627 637 I>T No Ensembl
rs370564561 637 I>V No ESP
TOPMed
gnomAD
rs753615095 639 E>G No ExAC
TOPMed
gnomAD
rs753615095 639 E>V No ExAC
TOPMed
gnomAD
rs1482287694 640 V>A No TOPMed
gnomAD
rs1482287694 640 V>E No TOPMed
gnomAD
rs150873641 640 V>I No ESP
ExAC
TOPMed
gnomAD
rs1397100927 641 D>G No TOPMed
gnomAD

No associated diseases with P34931

3 regional properties for P34931

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

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

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.
cell body The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections.
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.
mitochondrial matrix The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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.
vesicle Any small, fluid-filled, spherical organelle enclosed by membrane.
zona pellucida receptor complex A multisubunit complex comprising the chaperonin-containing T-complex and several other components involved in mediating sperm-oocyte Interaction.

7 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.
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.

5 GO annotations of biological process

Name Definition
binding of sperm to zona pellucida The process in which the sperm binds to the zona pellucida glycoprotein layer of the egg. The process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place.
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.
positive regulation of protein targeting to mitochondrion Any process that activates or increases the frequency, rate or extent of protein targeting to mitochondrion.
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
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
P11147 Hsc70-4 Heat shock 70 kDa protein cognate 4 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
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
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
P16627 Hspa1l Heat shock 70 kDa protein 1-like 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
MATAKGIAIG IDLGTTYSCV GVFQHGKVEI IANDQGNRTT PSYVAFTDTE RLIGDAAKNQ
70 80 90 100 110 120
VAMNPQNTVF DAKRLIGRKF NDPVVQADMK LWPFQVINEG GKPKVLVSYK GENKAFYPEE
130 140 150 160 170 180
ISSMVLTKLK ETAEAFLGHP VTNAVITVPA YFNDSQRQAT KDAGVIAGLN VLRIINEPTA
190 200 210 220 230 240
AAIAYGLDKG GQGERHVLIF DLGGGTFDVS ILTIDDGIFE VKATAGDTHL GGEDFDNRLV
250 260 270 280 290 300
SHFVEEFKRK HKKDISQNKR AVRRLRTACE RAKRTLSSST QANLEIDSLY EGIDFYTSIT
310 320 330 340 350 360
RARFEELCAD LFRGTLEPVE KALRDAKMDK AKIHDIVLVG GSTRIPKVQR LLQDYFNGRD
370 380 390 400 410 420
LNKSINPDEA VAYGAAVQAA ILMGDKSEKV QDLLLLDVAP LSLGLETAGG VMTALIKRNS
430 440 450 460 470 480
TIPTKQTQIF TTYSDNQPGV LIQVYEGERA MTKDNNLLGR FDLTGIPPAP RGVPQIEVTF
490 500 510 520 530 540
DIDANGILNV TATDKSTGKV NKITITNDKG RLSKEEIERM VLDAEKYKAE DEVQREKIAA
550 560 570 580 590 600
KNALESYAFN MKSVVSDEGL KGKISESDKN KILDKCNELL SWLEVNQLAE KDEFDHKRKE
610 620 630 640
LEQMCNPIIT KLYQGGCTGP ACGTGYVPGR PATGPTIEEV D