Q7Z5R6

SS
Gene name
APBB1IP (PREL1, RARP1, RIAM)
Protein name
Amyloid beta A4 precursor protein-binding family B member 1-interacting protein
Names
APBB1-interacting protein 1 , Proline-rich EVH1 ligand 1 , PREL-1 , Proline-rich protein 73 , Rap1-GTP-interacting adapter molecule , RIAM , Retinoic acid-responsive proline-rich protein 1 , RARP-1
Species
Homo sapiens (Human)
KEGG Pathway
hsa:54518
EC number
Protein Class

Descriptions

RIAM is a multidomain scaffold protein that is regulated by recruitment from the cytosol to the plasma membrane. RIAM is autoinhibited by an intramolecular interaction between the inhibitory segment (IN) region and the RAS-association (RA) region, which inhibits its association with RAP1. Phosphorylation of Tyr45 in the IN segment by focal adhesion kinase (FAK) releases this autoinhibition, facilitating translocation to the plasma membrane and enhancing integrin-mediated cell adhesion.

Autoinhibitory domains (AIDs)

27-93 (An inhibitory segment near the RIAM N-terminus) SS

Target domain

176-263 (RAS-association (RA) region)

Relief mechanism

PTM

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

3 structures for Q7Z5R6

Entry ID Method Resolution Chain Position Source
2MWN NMR - A 7-30 PDB
3ZDL X-ray 230 A B 1-31 PDB
AF-Q7Z5R6-F1 Predicted AlphaFoldDB

721 variants for Q7Z5R6

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 1 M>? Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1835965441 2 G>S No TOPMed
TCGA novel 3 E>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs984470921 5 S>R No TOPMed
gnomAD
COSM683556 6 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1321402 7 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs888744251 9 D>E No TOPMed
rs1224943954 9 D>N No gnomAD
COSM5197318
rs146489691
COSM5197317
COSM427418
 11 M>I Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
NCI-TCGA Cosmic
NCI-TCGA
rs1835965722 11 M>L No gnomAD
rs1835965872 15 L>S No TOPMed
TCGA novel 17 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 17 G>E Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1835965979 18 E>G No TOPMed
rs1835965939 18 E>K No Ensembl
rs2132430446 19 M>I No Ensembl
rs779220445 26 L>I No ExAC
TOPMed
gnomAD
rs1336673543 27 G>R No TOPMed
gnomAD
rs750734525 30 T>S No ExAC
gnomAD
rs898416599 31 L>V No TOPMed
gnomAD
COSM917336 32 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201471966 33 P>L No ExAC
TOPMed
gnomAD
rs201471966 33 P>R No ExAC
TOPMed
gnomAD
COSM4844655
COSM3978412
COSM3978411
 33 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1347384
COSM5130164
COSM5130163
 34 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs556843650 35 D>E No ExAC
TOPMed
gnomAD
rs568265142 36 P>L No 1000Genomes
ExAC
gnomAD
rs568265142 36 P>R No 1000Genomes
ExAC
gnomAD
TCGA novel 38 P>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1028172656 41 A>G No TOPMed
rs748677908 43 F>L No ExAC
TOPMed
gnomAD
rs1177789790 46 S>N No gnomAD
rs1177789790 46 S>T No gnomAD
rs1378321569 47 V>M No gnomAD
rs1446369546 48 G>R No gnomAD
TCGA novel 48 G>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773977870 50 K>T No ExAC
TOPMed
gnomAD
rs1389280552 51 D>E No TOPMed
rs933310739 51 D>G No TOPMed
gnomAD
rs373211324 51 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs933310739 51 D>V No TOPMed
gnomAD
rs373211324 51 D>Y No ESP
TOPMed
gnomAD
rs2132433880 54 E>* No Ensembl
TCGA novel 54 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3436874
COSM3436873
 54 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1302711831 55 S>C No gnomAD
rs1384483678 57 N>S No gnomAD
rs1349590127 58 A>T No TOPMed
rs758743296 59 L>M No ExAC
gnomAD
rs1836087373 59 L>P No TOPMed
rs1482278467 60 E>D No gnomAD
rs933832988 60 E>Q No Ensembl
rs1217003355
COSM1741536
 61 D>N urinary_tract [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1265251797 63 D>E No gnomAD
rs1836087629 64 L>S No Ensembl
rs766645340 65 D>H No ExAC
gnomAD
rs766645340 65 D>N No ExAC
gnomAD
rs751830726 65 D>V No ExAC
gnomAD
rs755372623 66 A>G No ExAC
TOPMed
gnomAD
rs1328873861 66 A>S No Ensembl
rs755372623 66 A>V No ExAC
TOPMed
gnomAD
rs1046978515 70 D>E No gnomAD
rs140570947 70 D>H No ESP
TOPMed
gnomAD
rs748709898 71 L>P No ExAC
gnomAD
rs1836088178 72 V>A No TOPMed
rs756752019 72 V>L No ExAC
TOPMed
rs866317903 73 A>S No Ensembl
rs143713067 74 D>G No ESP
ExAC
TOPMed
gnomAD
COSM5087640
COSM1347385
COSM5087639
 75 I>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1191010173 76 S>N No gnomAD
COSM6065950
COSM6065949
COSM6065951
 78 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1430982414 78 A>T No gnomAD
COSM683555 79 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1836088528 79 E>Q No TOPMed
TCGA novel 81 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1385854565 82 T>A No TOPMed
gnomAD
rs45596737 83 I>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs775214385 83 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs45596737 83 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1836088733 84 Q>H No Ensembl
COSM465559 87 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1836088854 87 K>T No Ensembl
rs1357860268 88 E>D No TOPMed
gnomAD
rs746726119 88 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1455780821 89 S>T No gnomAD
rs1836089104 89 S>Y No gnomAD
rs376106941 90 L>S No ESP
ExAC
TOPMed
gnomAD
rs1446229853 91 Q>E No TOPMed
gnomAD
rs1446229853
COSM171401
 91 Q>K large_intestine [Cosmic] No cosmic curated
TOPMed
gnomAD
rs553320673 92 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1836089319 93 Q>R No TOPMed
rs765386591 94 H>Q No ExAC
TOPMed
gnomAD
rs1346399812 95 H>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1346399812 95 H>P No TOPMed
gnomAD
COSM4894084
rs138851282
COSM4894083
COSM4894082
 95 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1218916907 96 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1836089607 97 A>T No TOPMed
rs1300328075 97 A>V No TOPMed
gnomAD
rs1564362016
COSM5179910
COSM309201
COSM5179911
 100 Q>* lung Variant assessed as Somatic; HIGH impact. large_intestine [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs1836089834 101 A>T No gnomAD
rs2132437384 103 I>N No Ensembl
rs148086849 103 I>V No ESP
ExAC
gnomAD
COSM1505221
COSM6129414
COSM6129412
COSM6129413
rs1012939575
 105 S>C lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1024356187 106 G>S No Ensembl
rs766443608 107 A>S No ExAC
gnomAD
rs971514523 108 A>G No TOPMed
rs1836090156 108 A>T No Ensembl
COSM917337 109 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs371407206 110 L>P No 1000Genomes
ExAC
gnomAD
rs371407206 110 L>R No 1000Genomes
ExAC
gnomAD
rs1478150736 111 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1836090395 111 G>R No TOPMed
gnomAD
rs77374840 114 T>K No TOPMed
rs1224644836 116 V>D No TOPMed
gnomAD
rs755281590 116 V>I No ExAC
TOPMed
gnomAD
rs879091327 117 A>P No Ensembl
COSM683554 118 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs767990384 119 T>A No ExAC
TOPMed
gnomAD
rs767990384 119 T>P No ExAC
TOPMed
gnomAD
rs1276864761 120 G>R No TOPMed
rs1421268787 120 G>V No gnomAD
COSM4013511
COSM4013512
 121 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1836090822 122 S>T No Ensembl
rs1836090923 124 Y>C No TOPMed
rs1836091004 125 E>K No Ensembl
rs753169068 125 E>V No ExAC
gnomAD
rs1346186156 126 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM3355787
COSM3355786
COSM5777985
 126 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs565412182 126 D>N No 1000Genomes
ExAC
gnomAD
rs745319507 127 D>A No ExAC
rs757943404 127 D>E No ExAC
rs745319507 127 D>V No ExAC
COSM4013514
COSM4013513
 128 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs779563635 128 L>F No ExAC
TOPMed
gnomAD
rs1305018173 128 L>S No TOPMed
gnomAD
rs768305709 129 P>Q No ExAC
gnomAD
rs1435987194 129 P>S No gnomAD
rs1435987194 129 P>T No gnomAD
rs1309817513 130 P>H No gnomAD
rs1309817513 130 P>L No gnomAD
rs773285468 130 P>S No ExAC
TOPMed
gnomAD
rs773285468 130 P>T No ExAC
TOPMed
gnomAD
rs1836092130 131 P>L No TOPMed
rs1293289696 132 P>L No gnomAD
rs1177317010 133 A>T No TOPMed
gnomAD
rs759838553
COSM4983545
COSM18207
COSM4176797
 134 D>N Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753023813 136 V>M No ExAC
TOPMed
gnomAD
rs201918022 138 D>A No ExAC
TOPMed
gnomAD
rs764531668 138 D>E No ExAC
gnomAD
rs201918022 138 D>G No ExAC
TOPMed
gnomAD
rs754404667 139 L>F No ExAC
gnomAD
rs754404667 139 L>I No ExAC
gnomAD
TCGA novel 140 P>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1414599392 142 P>L No gnomAD
rs530352413 143 P>R No ExAC
TOPMed
gnomAD
rs914899260 143 P>S No gnomAD
rs1331789287 144 P>L No gnomAD
rs747882949 145 P>A No ExAC
TOPMed
gnomAD
rs747882949 145 P>T No ExAC
TOPMed
gnomAD
rs769724583 146 P>A No ExAC
gnomAD
rs769724583 146 P>S No ExAC
gnomAD
rs1285911822 147 E>D No TOPMed
gnomAD
rs922350003 147 E>K No Ensembl
TCGA novel 147 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777839599 148 P>H No ExAC
TOPMed
gnomAD
rs777839599 148 P>L No ExAC
TOPMed
gnomAD
TCGA novel 151 Q>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
COSM2134104
COSM4176798
COSM4843832
 151 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1287228962 151 Q>L No gnomAD
rs1477586993 152 E>Q No gnomAD
COSM3436879 154 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1219702553 156 A>G No TOPMed
rs757019430 157 Q>R No ExAC
gnomAD
rs113442503 158 A>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs113442503 158 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61758872 159 K>N No ExAC
TOPMed
gnomAD
rs1420294031 159 K>R No TOPMed
gnomAD
rs1336784045 160 A>T No TOPMed
gnomAD
rs780157280 161 D>G No ExAC
TOPMed
gnomAD
rs780157280 161 D>V No ExAC
TOPMed
gnomAD
rs1836128846 165 L>V No Ensembl
rs1836128941
TCGA novel
 166 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
COSM2134111 168 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs538523075 170 L>M No 1000Genomes
rs1433925766 174 K>N No TOPMed
gnomAD
rs770112760 174 K>R No ExAC
gnomAD
COSM298047 177 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs143340134
COSM274003
 178 L>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1836262852 178 L>H No TOPMed
rs750180116 179 V>I No ExAC
TOPMed
gnomAD
rs534284916 180 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs1588595732 182 V>G No Ensembl
rs1397190214 184 M>T No gnomAD
rs755080051 184 M>V No ExAC
gnomAD
rs1364467612 185 N>S No gnomAD
rs1018470330 187 N>K No TOPMed
rs1226489021 188 S>G No TOPMed
gnomAD
rs1312054980 188 S>N No gnomAD
COSM4013515 193 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756237192 193 M>T No ExAC
TOPMed
gnomAD
TCGA novel 194 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1836263737 194 V>M No Ensembl
rs778083511 195 D>G No ExAC
TOPMed
gnomAD
rs749595022 196 E>D No ExAC
gnomAD
rs771434023 197 R>Q No ExAC
TOPMed
gnomAD
rs1836263893 197 R>W No TOPMed
rs1017383098 201 R>* No TOPMed
gnomAD
COSM1297188 201 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM917338
rs779560771
 201 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746421669 202 D>E No ExAC
TOPMed
gnomAD
rs769264777 204 L>R No ExAC
gnomAD
TCGA novel 206 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766226916 207 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs766226916
COSM917339
 207 L>I Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 208 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 209 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4662357
rs963182903
COSM184211
 209 E>K Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
COSM917340 211 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4828110
COSM4828109
 212 H>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1564365256 212 H>R No Ensembl
rs1836264721 212 H>Y No gnomAD
rs759440996 213 C>R No ExAC
gnomAD
rs767509551 213 C>Y No ExAC
TOPMed
gnomAD
rs1836264950 214 D>N No TOPMed
rs1836265046 215 C>G No TOPMed
rs143975736 216 N>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143975736 216 N>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 217 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs148607337 217 V>I No ESP
ExAC
gnomAD
rs779472769 219 W>* No ExAC
TOPMed
gnomAD
rs779472769 219 W>C No ExAC
TOPMed
gnomAD
rs757668481 219 W>R No ExAC
gnomAD
rs1263345764 221 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs372693226 222 Y>C No ESP
ExAC
TOPMed
gnomAD
rs1588595853 225 Y>C No Ensembl
rs780615541 226 P>L No ExAC
TOPMed
gnomAD
rs1167101734 231 E>G No gnomAD
rs747616190 232 R>S No ExAC
gnomAD
rs755589060 233 F>L No ExAC
TOPMed
gnomAD
rs199925378 237 H>D No TOPMed
rs868034331
COSM1702194
 238 E>K Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs777313172 240 V>L No ExAC
TOPMed
gnomAD
rs1836287575 241 V>A No Ensembl
TCGA novel 241 V>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs550904855 244 L>V No 1000Genomes
ExAC
gnomAD
COSM3436882 246 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1836287745 247 W>* No gnomAD
rs773993669 248 T>I No ExAC
gnomAD
rs773993669 248 T>K No ExAC
gnomAD
rs1836287832 249 R>T No TOPMed
TCGA novel 251 T>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs267602454 252 E>K No ExAC
TOPMed
gnomAD
rs267602454 252 E>Q No ExAC
TOPMed
gnomAD
rs1836288087 257 F>Y No TOPMed
rs1362894003 261 E>K No gnomAD
rs1417471391 262 E>D No TOPMed
gnomAD
rs764152257 264 Y>C No ExAC
gnomAD
rs1468616201 265 A>T No gnomAD
rs1167350330 266 V>A No TOPMed
rs776817044 267 F>L No ExAC
gnomAD
rs761989806 269 N>T No ExAC
TOPMed
gnomAD
TCGA novel 269 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM3967024 270 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4892715
COSM1183174
 270 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs746834972 272 N>S No ExAC
gnomAD
COSM5668408
COSM309202
 274 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs139373674 275 L>W No ESP
ExAC
TOPMed
gnomAD
rs1210020020 276 D>N No gnomAD
rs1185990811 277 N>S No gnomAD
COSM5668951
COSM5668952
 278 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774280231 278 R>K No Ensembl
rs1426063958 279 G>R No gnomAD
COSM3436883 282 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4746826
COSM1638537
rs1478302580
 282 E>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs551013238 283 S>N No 1000Genomes
ExAC
gnomAD
rs1836579455 284 K>E No TOPMed
COSM3436884 285 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1836579532 286 T>S No TOPMed
gnomAD
COSM4974826
COSM917342
 288 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1176028859 289 K>N No TOPMed
gnomAD
COSM917343 290 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1321401 290 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763282951 291 N>K No ExAC
TOPMed
gnomAD
COSM1347393
COSM5173081
 292 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1242385480 294 N>S No gnomAD
rs766532031 296 E>G No ExAC
gnomAD
rs1588608215 299 L>P No Ensembl
rs867311756 300 E>K No Ensembl
rs761123781 301 E>G No ExAC
TOPMed
gnomAD
rs1836619126 302 S>T No Ensembl
COSM5825629
COSM3414938
 303 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 303 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764541393 304 C>R No ExAC
TOPMed
gnomAD
rs1265812822 304 C>Y No Ensembl
rs2132465268 307 S>Y No Ensembl
rs1354534151 308 I>T No gnomAD
rs183760736 308 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1281363179 309 I>V No TOPMed
gnomAD
rs1017625575 310 V>I No TOPMed
rs570634404 313 L>M No 1000Genomes
ExAC
gnomAD
rs570634404 313 L>V No 1000Genomes
ExAC
gnomAD
rs1453692295 315 G>E No TOPMed
gnomAD
rs1554779048 315 G>R No Ensembl
rs747975446 316 A>T No ExAC
gnomAD
rs2132465314 316 A>V No Ensembl
rs756035654 317 L>F No ExAC
gnomAD
rs1327667927 321 E>A No gnomAD
rs1157570303 322 D>G No gnomAD
rs1429951217 322 D>N No TOPMed
rs1157570303 322 D>V No gnomAD
rs1429951217 322 D>Y No TOPMed
COSM224365 323 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770973416 323 G>R No ExAC
gnomAD
rs774551232 324 K>N No ExAC
gnomAD
COSM6013806
COSM6013805
 326 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1836620282 326 S>Y No Ensembl
COSM2134121 327 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1225023742 329 R>K No TOPMed
gnomAD
rs981225152 329 R>S No Ensembl
COSM274004
rs1836620496
 330 R>C Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2132465356 332 F>L No Ensembl
COSM6032508
COSM6032509
 332 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1374600951 333 L>H No TOPMed
gnomAD
rs796405869 333 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs772305627 335 R>L No ExAC
gnomAD
rs772305627
COSM1347396
 335 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1312142200
COSM35507
 335 R>W Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1415816480 337 S>A No TOPMed
rs11015158 337 S>F No Ensembl
rs1259101877 341 Y>C No gnomAD
rs1836620941 341 Y>H No TOPMed
COSM1474569
COSM5831448
 341 Y>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1210706920 342 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1836621140 343 P>A No gnomAD
rs777066665 343 P>L No ExAC
gnomAD
rs201000363 344 K>Q No 1000Genomes
ExAC
TCGA novel 345 G>E Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1239954436
COSM5526750
COSM3867067
 345 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2132465408 347 T>A No Ensembl
rs1180459732 347 T>N No gnomAD
rs1461901363 349 T>I No gnomAD
rs1424837030 349 T>P No gnomAD
rs1173507704 351 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs375021559 351 R>P No ESP
ExAC
TOPMed
gnomAD
rs375021559 351 R>Q No ESP
ExAC
TOPMed
gnomAD
rs768972423 352 D>H No ExAC
gnomAD
rs1312412445 353 L>Q No gnomAD
rs777167702 354 A>E No ExAC
TOPMed
gnomAD
rs1425234688 354 A>P No TOPMed
gnomAD
rs777167702 354 A>V No ExAC
TOPMed
gnomAD
rs1307877287 357 I>V No TOPMed
gnomAD
rs372662729 360 E>A No ESP
ExAC
TOPMed
gnomAD
rs2132469475 361 N>H No Ensembl
rs1249545972 361 N>S No gnomAD
rs1483915178
COSM1347398
 363 N>S large_intestine [Cosmic] No cosmic curated
TOPMed
gnomAD
rs940851472 364 I>V No Ensembl
COSM4013519 365 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1588612320 369 Q>K No Ensembl
COSM683548 372 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs914944247 374 Y>F No TOPMed
gnomAD
COSM683547 375 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 375 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1564373716 375 K>N No Ensembl
rs752350360
COSM1675133
 376 A>V Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756030620 380 Y>C No Ensembl
rs1836699242 380 Y>H No TOPMed
gnomAD
COSM3436885 381 C>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1168880510 382 F>L No gnomAD
COSM5224022
COSM1474570
 383 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773865994 386 H>Y No ExAC
gnomAD
rs1207140230 393 S>T No Ensembl
rs1836948229 394 Q>R No TOPMed
rs1451986969 396 I>V No gnomAD
rs1588620307 397 K>R No Ensembl
rs1286872497 398 Y>F No gnomAD
TCGA novel 399 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1372976618 399 L>V No gnomAD
rs1441486035 401 C>Y No gnomAD
rs1836948564 402 D>G No TOPMed
rs34081356
VAR_050098
 404 T>A No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs775177132 404 T>I No ExAC
TOPMed
gnomAD
rs775177132 404 T>R No ExAC
TOPMed
gnomAD
TCGA novel 405 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3436888 405 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 405 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs141063068 410 W>R No ESP
rs113690931 411 V>I No Ensembl
rs753511639 412 M>T No ExAC
TOPMed
gnomAD
rs763828374 412 M>V No ExAC
gnomAD
rs866267918
COSM3867069
 413 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
COSM3686690
rs1216651320
COSM5134732
 415 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs761612112 415 R>W No ExAC
TOPMed
gnomAD
COSM917345 416 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1588620339 417 A>T No Ensembl
rs750427602 417 A>V No ExAC
TOPMed
gnomAD
rs1836956870 422 T>A No Ensembl
rs773115126 423 L>F No ExAC
gnomAD
rs773115126 423 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1232325558 424 Y>C No gnomAD
rs766373559 425 D>E No ExAC
gnomAD
rs1183750838 428 Q>R No gnomAD
TCGA novel 429 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs370621308 429 R>Q No ESP
ExAC
TOPMed
gnomAD
rs143061604
RCV000891775
 429 R>W No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1184889929 430 A>T No TOPMed
rs1163903094 431 V>M No gnomAD
rs756515967 432 A>E No ExAC
gnomAD
rs753032393 432 A>T No ExAC
gnomAD
rs756515967 432 A>V No ExAC
gnomAD
rs1588620569 433 K>R No Ensembl
rs1314233917 436 L>F No gnomAD
rs778331111 438 S>A No ExAC
TOPMed
gnomAD
rs778331111 438 S>P No ExAC
TOPMed
gnomAD
rs1024493265 439 R>Q No TOPMed
gnomAD
rs373720475 439 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM6129408
COSM6129409
 440 W>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1341943835 441 T>A No TOPMed
gnomAD
rs1341943835 441 T>S No TOPMed
gnomAD
rs757797250 442 N>D No ExAC
gnomAD
rs757797250 442 N>H No ExAC
gnomAD
rs1305783086 444 G>E No gnomAD
COSM270745 445 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1282646518 445 T>I No TOPMed
gnomAD
rs1282646518 445 T>K No TOPMed
gnomAD
rs367552700 447 N>D No ESP
ExAC
TOPMed
gnomAD
rs148216770 447 N>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 449 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs143224011 449 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1410340971 451 P>Q No TOPMed
gnomAD
rs772953574 451 P>T No ExAC
TOPMed
gnomAD
rs1023148405 452 A>G No TOPMed
gnomAD
rs1168364356 452 A>P No gnomAD
rs1023148405 452 A>V No TOPMed
gnomAD
rs1836959038 453 Q>K No Ensembl
rs1418686980 454 P>A No gnomAD
rs762738139 454 P>L No ExAC
TOPMed
gnomAD
rs1418686980 454 P>S No gnomAD
rs139055302 455 S>F No ESP
ExAC
TOPMed
gnomAD
rs1386669366 457 G>E No gnomAD
rs1564379762 459 K>E No Ensembl
rs2132485378 459 K>R No Ensembl
rs2132485381 460 T>I No Ensembl
rs747691466 461 G>D No ExAC
TOPMed
gnomAD
rs780636405 461 G>S No ExAC
rs777413743 462 T>I No ExAC
TOPMed
gnomAD
rs1007924602 463 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs896903445 464 Q>* No gnomAD
rs896903445 464 Q>E No gnomAD
rs1370257189 466 N>D No gnomAD
rs770822531 466 N>S No ExAC
TOPMed
gnomAD
rs774121997 467 G>R No ExAC
gnomAD
rs759567125 468 Q>H No ExAC
gnomAD
rs1006407106 469 I>M No TOPMed
gnomAD
rs1394608531 471 Q>H No TOPMed
gnomAD
rs1215418955 471 Q>P No gnomAD
TCGA novel 471 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771925795 472 A>P No ExAC
gnomAD
rs755767751 473 T>A No gnomAD
rs775669551 474 H>N No ExAC
TOPMed
gnomAD
rs994370696 474 H>R No Ensembl
rs775669551 474 H>Y No ExAC
TOPMed
gnomAD
rs1470279792 475 S>F No gnomAD
rs1026831894 475 S>P No Ensembl
rs952583906 476 V>F No TOPMed
gnomAD
rs952583906 476 V>I No TOPMed
gnomAD
rs200319514 479 V>A No 1000Genomes
rs1294997113 479 V>I No gnomAD
rs1294997113 479 V>L No gnomAD
rs1383170056 482 E>V No TOPMed
gnomAD
rs764399444 483 A>V No ExAC
TOPMed
gnomAD
rs1161115911 484 Q>R No TOPMed
rs754181525 487 A>T No ExAC
gnomAD
rs1836985449 489 T>A No TOPMed
rs1327803771 489 T>R No gnomAD
rs762052919 490 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs762052919 490 S>W No ExAC
TOPMed
gnomAD
rs762050173 493 K>E No ExAC
gnomAD
rs1486434682 493 K>M No gnomAD
rs1477500539 493 K>N No TOPMed
gnomAD
COSM683542
COSM5613191
 494 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2132488975 495 P>L No Ensembl
rs750735600 496 A>T No ExAC
gnomAD
rs763244242 497 L>F No ExAC
gnomAD
rs763244242 497 L>V No ExAC
gnomAD
rs766854764 498 G>E No ExAC
gnomAD
rs1837053473 498 G>R No gnomAD
rs1461986600 500 H>N No TOPMed
gnomAD
rs1055561877 500 H>Q No gnomAD
rs1461986600 500 H>Y No TOPMed
gnomAD
rs755585339 501 H>Q No ExAC
TOPMed
gnomAD
rs1588623353 502 D>A No Ensembl
rs763639873 502 D>E No ExAC
TOPMed
gnomAD
rs756893811 504 A>E No ExAC
TOPMed
gnomAD
rs1837053962
COSM365611
 504 A>S lung [Cosmic] No cosmic curated
Ensembl
rs756893811 504 A>V No ExAC
TOPMed
gnomAD
rs1394050326 505 V>M No gnomAD
rs1837054159 506 P>T No TOPMed
gnomAD
rs758336824 507 R>P No ExAC
TOPMed
gnomAD
rs758336824 507 R>Q No ExAC
TOPMed
gnomAD
rs746992246
COSM1171682
 508 A>T oesophagus [Cosmic] No cosmic curated
ExAC
gnomAD
rs1349463524 508 A>V No gnomAD
rs1339919326 509 P>L No TOPMed
gnomAD
rs1211075216 509 P>T No gnomAD
rs768737682 510 H>P No ExAC
gnomAD
rs768737682 510 H>R No ExAC
gnomAD
rs1482104882 511 A>S No TOPMed
gnomAD
rs1482104882 511 A>T No TOPMed
gnomAD
rs1188657681
COSM1718059
 511 A>V NS [Cosmic] No cosmic curated
gnomAD
rs748185388 512 P>A No ExAC
TOPMed
gnomAD
rs1187259631 512 P>L No gnomAD
rs773367935 513 K>M No ExAC
TOPMed
gnomAD
rs114997244 513 K>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1413660877 513 K>Q No Ensembl
rs773367935 513 K>T No ExAC
TOPMed
gnomAD
rs1357640897 515 S>N No gnomAD
rs1455575757 516 L>P No gnomAD
rs1290388836 517 P>S No TOPMed
gnomAD
rs766768599 518 P>Q No ExAC
gnomAD
rs766768599 518 P>R No ExAC
gnomAD
TCGA novel 518 P>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs774814980 520 P>L No ExAC
TOPMed
gnomAD
rs759985543 521 P>L No ExAC
gnomAD
rs753322088 523 R>Q No ExAC
TOPMed
gnomAD
rs768042501 523 R>W No ExAC
TOPMed
gnomAD
rs1588623445 525 S>A No Ensembl
rs1837055830 525 S>F No TOPMed
rs529777081 526 S>Y No 1000Genomes
gnomAD
rs1261634049 527 D>N No TOPMed
gnomAD
rs2132489160 528 T>N No Ensembl
rs1837056112 529 S>I No gnomAD
rs1837056112 529 S>T No gnomAD
rs200232575
COSM1739701
 530 G>C haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1317451020 530 G>D No gnomAD
rs200232575 530 G>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1837056466 533 A>T No TOPMed
rs750083696 534 T>A No ExAC
gnomAD
TCGA novel 534 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1837056616 535 P>H No TOPMed
rs1837056561 535 P>S No Ensembl
rs2132489213 536 L>P No Ensembl
rs1837056717 537 K>N No TOPMed
rs1837056832 539 K>Q No TOPMed
gnomAD
rs779947524 540 G>D No ExAC
TOPMed
gnomAD
rs1421055126 541 T>S No TOPMed
gnomAD
rs2132489233 543 G>S No Ensembl
rs1160145780 544 G>R No gnomAD
rs1300979928 545 G>D No Ensembl
rs746834756 547 P>S No ExAC
gnomAD
rs1396591431 548 A>V No gnomAD
TCGA novel 550 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1837057512 550 P>L No Ensembl
rs976915566 551 D>N No gnomAD
rs1837057689 552 D>N No Ensembl
TCGA novel 552 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1225077094 553 F>I No gnomAD
rs1225077094 553 F>L No gnomAD
rs781009429 553 F>S No ExAC
gnomAD
rs946245838 555 P>L No TOPMed
gnomAD
rs1275484655 556 P>L No TOPMed
gnomAD
rs1275484655 556 P>Q No TOPMed
gnomAD
rs748249745 556 P>S No ExAC
rs769827764 557 P>L No ExAC
gnomAD
rs769827764 557 P>R No ExAC
gnomAD
rs1220589467 557 P>T No TOPMed
rs1837058803 559 P>S No gnomAD
rs1837059271 560 P>A No TOPMed
rs1227672195 560 P>L No TOPMed
gnomAD
rs1227672195 560 P>Q No TOPMed
gnomAD
rs1407515701 562 P>L No gnomAD
rs1177941423 562 P>S No gnomAD
TCGA novel 563 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1466781277 563 L>P No Ensembl
rs1156652551 564 D>E No gnomAD
rs1471771634 564 D>G No gnomAD
rs1837059625 564 D>N No 1000Genomes
TOPMed
gnomAD
rs1471771634 564 D>V No gnomAD
rs1163380652 567 E>Q No TOPMed
gnomAD
rs925580313 568 L>F No 1000Genomes
gnomAD
rs1837060034 569 P>Q No gnomAD
rs1164039719 569 P>S No gnomAD
rs566538446 571 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1298315964 572 P>S No TOPMed
gnomAD
rs1298315964 572 P>T No TOPMed
gnomAD
rs1239070623 573 P>S No Ensembl
rs774657527 574 D>A No ExAC
TOPMed
gnomAD
rs774657527 574 D>G No ExAC
TOPMed
gnomAD
rs774657527 574 D>V No ExAC
TOPMed
gnomAD
rs1837060611 575 F>L No Ensembl
rs1157471172 576 M>T No 1000Genomes
gnomAD
rs1837060836 577 E>A No Ensembl
rs1837060896 577 E>D No Ensembl
rs1837060780 577 E>K No TOPMed
rs1335952073 578 P>S No gnomAD
rs1837061257 582 F>L No TOPMed
gnomAD
rs1837061385 583 V>A No Ensembl
rs1232415548 584 P>S No TOPMed
gnomAD
rs1482186032 585 P>A No gnomAD
rs1190364023 585 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1837061770 586 P>S No gnomAD
rs1837061770 586 P>T No gnomAD
rs894228521 587 P>A No 1000Genomes
gnomAD
rs1181122176 588 P>Q No gnomAD
rs1181122176 588 P>R No gnomAD
rs1157361845 589 S>L No 1000Genomes
rs1373220775 589 S>P No gnomAD
rs1157361845 589 S>W No 1000Genomes
rs1837062656 591 A>G No Ensembl
rs1170506726 591 A>S No gnomAD
rs1170506726 591 A>T No gnomAD
rs1381314723 593 I>F No Ensembl
rs2132489566 593 I>T No Ensembl
rs1381314723 593 I>V No Ensembl
rs1369425339 595 G>D No gnomAD
rs1431675751 595 G>S No TOPMed
rs1837062955 597 E>Q No 1000Genomes
gnomAD
rs1045509412 598 L>P No gnomAD
rs1045509412 598 L>Q No gnomAD
rs1045509412 598 L>R No gnomAD
rs949838125 598 L>V No gnomAD
rs1356437637 599 P>S No TOPMed
gnomAD
rs759897224 600 P>A No ExAC
TOPMed
gnomAD
rs1296960573 600 P>L No TOPMed
gnomAD
rs1296960573 600 P>Q No TOPMed
gnomAD
rs1314335534 600 P>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs759897224 600 P>T No ExAC
TOPMed
gnomAD
rs1349578661 601 P>L No gnomAD
rs1361674024 601 P>S No Ensembl
TCGA novel 602 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1407937540 603 P>L No 1000Genomes
TOPMed
gnomAD
rs1407937540 603 P>R No 1000Genomes
TOPMed
gnomAD
TCGA novel 603 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1837064314 604 P>R No TOPMed
gnomAD
rs1837064258 604 P>S No Ensembl
TCGA novel 604 P>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1837064484 605 P>A No Ensembl
rs1206713686 605 P>R No TOPMed
gnomAD
rs1340175855 607 A>E No gnomAD
rs1239821435 607 A>P No gnomAD
rs1239821435
TCGA novel
 607 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1340175855 607 A>V No gnomAD
rs976841272 608 P>A No TOPMed
rs1029796857 608 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs976841272 608 P>S No TOPMed
rs1341717113 609 A>E No TOPMed
gnomAD
rs1341717113 609 A>V No TOPMed
gnomAD
rs1209120585 610 P>H No gnomAD
rs1837065463 610 P>S No gnomAD
rs1467787190 611 A>S No TOPMed
gnomAD
rs1467787190 611 A>T No TOPMed
gnomAD
rs1837065755 611 A>V No Ensembl
rs957898105 612 P>A No TOPMed
gnomAD
rs1424311158 612 P>L No TOPMed
gnomAD
rs957898105 612 P>S No TOPMed
gnomAD
TCGA novel
rs2132489749
 613 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1440553910 614 P>R No TOPMed
gnomAD
rs1837066131 614 P>S No Ensembl
rs1388938296 615 D>N No gnomAD
rs1837066327 616 S>C No TOPMed
rs7903226 617 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000961994
VAR_059447
rs7903226
 617 A>T No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1413595535 618 R>S No gnomAD
rs751344296 620 P>L No ExAC
TOPMed
gnomAD
rs751344296 620 P>R No ExAC
TOPMed
gnomAD
rs1837067146 620 P>S No Ensembl
rs1297521191 621 P>L No TOPMed
gnomAD
rs754882433 621 P>S No ExAC
TOPMed
gnomAD
rs200114349 622 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752613920 622 A>P No ExAC
gnomAD
rs752613920 622 A>T No ExAC
gnomAD
RCV000947236
rs200114349
 622 A>V No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2132489826 623 V>M No Ensembl
rs749399600 625 K>N No ExAC
gnomAD
TCGA novel 625 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1837068637 627 P>S No gnomAD
rs1463541463 630 P>H No gnomAD
rs1588623809 630 P>S No TOPMed
gnomAD
rs1588623809 630 P>T No TOPMed
gnomAD
rs771072897 631 P>A No ExAC
TOPMed
gnomAD
rs746218305 631 P>H No ExAC
TOPMed
gnomAD
rs746218305 631 P>L No ExAC
TOPMed
gnomAD
rs746218305 631 P>R No ExAC
TOPMed
gnomAD
rs771072897 631 P>S No ExAC
TOPMed
gnomAD
rs772363392 632 K>E No ExAC
gnomAD
rs1410537889 632 K>R No gnomAD
rs929139971 633 R>M No TOPMed
gnomAD
rs1236041918 634 Q>E No TOPMed
gnomAD
rs776042695 635 E>K No ExAC
gnomAD
rs2132489898 637 P>Q No Ensembl
rs1387047350 637 P>S No gnomAD
rs1387047350 637 P>T No gnomAD
rs1326600615 639 H>Y No gnomAD
rs374621872 641 G>C No ESP
ExAC
TOPMed
gnomAD
rs374621872 641 G>S No ESP
ExAC
TOPMed
gnomAD
rs1837069940 642 G>* No gnomAD
rs751327796 642 G>E No ExAC
gnomAD
rs1267309420 643 A>V No TOPMed
gnomAD
rs1326968360 645 G>S No gnomAD
rs1450548866 646 G>E No gnomAD
rs1267394352 646 G>R No TOPMed
gnomAD
rs1267394352 646 G>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs767260875 647 E>G No ExAC
gnomAD
rs1837070446 647 E>K No TOPMed
gnomAD
rs1837070583 648 Q>P No TOPMed
rs1470329766 649 D>Y No gnomAD
rs1463437325 651 M>I No TOPMed
gnomAD
rs1564381575 651 M>L No Ensembl
rs755962662 651 M>T No ExAC
gnomAD
rs1564381575 651 M>V No Ensembl
rs777769666
COSM4826783
COSM4826784
 652 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753855824 654 L>F No ExAC
TOPMed
gnomAD
rs753855824 654 L>I No ExAC
TOPMed
gnomAD
rs779102305 655 M>I No ExAC
gnomAD
rs1336547880 655 M>R No gnomAD
rs1336547880 655 M>T No gnomAD
rs1287433427 659 Q>E No gnomAD
rs1837071316 660 K>E No TOPMed
rs746138783 660 K>R No ExAC
gnomAD
TCGA novel 663 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1837071527 663 G>V No TOPMed
gnomAD
rs376223102 664 N>I No ESP
ExAC
TOPMed
gnomAD
rs1837071815 667 S>S No Ensembl

No associated diseases with Q7Z5R6

3 regional properties for Q7Z5R6

Type Name Position InterPro Accession
domain Ras-associating domain 176 - 263 IPR000159
domain Pleckstrin homology domain 310 - 421 IPR001849
domain APBB1IP, PH domain 307 - 428 IPR039665

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Peripheral membrane protein
  • Cell projection, lamellipodium
  • Cell junction, focal adhesion
  • Cytoplasm, cytoskeleton
  • Colocalizes with ENA/VASP proteins at lamellipodia tips and focal adhesions, and F-actin at the leading edge
  • At the membrane surface, associates, via the PH domain, preferentially with the inositol phosphates, PtdIns(5)P and PtdIns(3)P
  • This binding appears to be necessary for the efficient interaction of the RA domain to Ras-GTPases (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
T cell receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name Definition
positive regulation of cell adhesion Any process that activates or increases the frequency, rate or extent of cell adhesion.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell The change in morphology and behavior of a mature or immature T cell resulting from exposure to an antigen for which its T cell receptor is specific bound to an MHC molecule on an antigen presenting cell, leading to the initiation or perpetuation of an immune response.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5ZL23 APBB1IP Amyloid beta A4 precursor protein-binding family B member 1-interacting protein Gallus gallus (Chicken) SS
Q8R5A3 Apbb1ip Amyloid beta A4 precursor protein-binding family B member 1-interacting protein Mus musculus (Mouse) EV
Q6PFT9 apbb1ip Amyloid beta A4 precursor protein-binding family B member 1-interacting protein Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MGESSEDIDQ MFSTLLGEMD LLTQSLGVDT LPPPDPNPPR AEFNYSVGFK DLNESLNALE
70 80 90 100 110 120
DQDLDALMAD LVADISEAEQ RTIQAQKESL QNQHHSASLQ ASIFSGAASL GYGTNVAATG
130 140 150 160 170 180
ISQYEDDLPP PPADPVLDLP LPPPPPEPLS QEEEEAQAKA DKIKLALEKL KEAKVKKLVV
190 200 210 220 230 240
KVHMNDNSTK SLMVDERQLA RDVLDNLFEK THCDCNVDWC LYEIYPELQI ERFFEDHENV
250 260 270 280 290 300
VEVLSDWTRD TENKILFLEK EEKYAVFKNP QNFYLDNRGK KESKETNEKM NAKNKESLLE
310 320 330 340 350 360
ESFCGTSIIV PELEGALYLK EDGKKSWKRR YFLLRASGIY YVPKGKTKTS RDLACFIQFE
370 380 390 400 410 420
NVNIYYGTQH KMKYKAPTDY CFVLKHPQIQ KESQYIKYLC CDDTRTLNQW VMGIRIAKYG
430 440 450 460 470 480
KTLYDNYQRA VAKAGLASRW TNLGTVNAAA PAQPSTGPKT GTTQPNGQIP QATHSVSAVL
490 500 510 520 530 540
QEAQRHAETS KDKKPALGNH HDPAVPRAPH APKSSLPPPP PVRRSSDTSG SPATPLKAKG
550 560 570 580 590 600
TGGGGLPAPP DDFLPPPPPP PPLDDPELPP PPPDFMEPPP DFVPPPPPSY AGIAGSELPP
610 620 630 640 650 660
PPPPPPAPAP APVPDSARPP PAVAKRPPVP PKRQENPGHP GGAGGGEQDF MSDLMKALQK
KRGNVS