Q96BJ8
SS
Gene name |
ELMO3 |
Protein name |
Engulfment and cell motility protein 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79767 |
EC number |
|
Protein Class |
|
Descriptions
Engulfment and cell motility (ELMO) proteins bind a subset of DOCK members and act as critical regulators of Rac signaling. Although formation of a DOCK180/ELMO complex is not essential for Rac1 activation, ELMO mutants deficient in binding to DOCK180 are unable to promote cytoskeleton remodeling. ELMO facilitates the co-localization of DOCK180 and Rac at the membrane and therefore indirectly endorses the Rac GEF activity of this complex. ELMO is autoinhibited via an intramolecular interaction between the N-terminal Armadillo repeats (ARMs, renamed ELMO Inhibitory Domain (EID)) and the C-terminal region termed the ELMO Autoregulatory Domain (EAD). Relief of ELMO autoinhibition occurs through cell stimulation and ELMO Ras-binding domain (RBD) engagement (via a GTPase or other unknown binding partner). Cell stimulation leads to ELMO conformational changes that facilitate DOCK180/ELMO interactions, which in turn enhances the Rac GEF activity in DOCK180.
Autoinhibitory domains (AIDs)
Target domain |
1-113 (Ras-binding domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
1-113 (Ras-binding domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Patel M et al. (2011) "The Arf family GTPase Arl4A complexes with ELMO proteins to promote actin cytoskeleton remodeling and reveals a versatile Ras-binding domain in the ELMO proteins family", The Journal of biological chemistry, 286, 38969-79
- Patel M et al. (2010) "An evolutionarily conserved autoinhibitory molecular switch in ELMO proteins regulates Rac signaling", Current biology : CB, 20, 2021-7
- Patel M et al. (2011) "Opening up on ELMO regulation: New insights into the control of Rac signaling by the DOCK180/ELMO complex", Small GTPases, 2, 268-275
Autoinhibited structure
Activated structure
1 structures for Q96BJ8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96BJ8-F1 | Predicted | AlphaFoldDB |
834 variants for Q96BJ8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs374173510 | 2 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1401756270 | 2 | A>V | No |
TOPMed gnomAD |
|
| rs1278665806 | 3 | P>L | No |
TOPMed gnomAD |
|
| rs2033039755 | 4 | P>L | No | TOPMed | |
| rs370559345 | 4 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs370559345 | 4 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs75193761 | 5 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs75193761 | 5 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs367662113 | 7 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs766647604 | 7 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs766647604 | 7 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs916974467 | 8 | V>A | No |
TOPMed gnomAD |
|
| rs762792916 | 9 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1264395577 | 9 | K>N | No | gnomAD | |
| rs764117710 | 9 | K>R | No |
ExAC gnomAD |
|
| rs751503222 | 10 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1191884214 | 12 | I>S | No | gnomAD | |
|
VAR_055402 RCV001687375 rs12923138 |
13 | K>Q | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs576749735 | 13 | K>R | No |
1000Genomes ExAC gnomAD |
|
| rs576749735 | 13 | K>T | No |
1000Genomes ExAC gnomAD |
|
| rs977619546 | 14 | M>L | No | TOPMed | |
| rs2142216516 | 14 | M>T | No | Ensembl | |
| rs749922307 | 15 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs749922307 | 15 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1366777912 | 15 | R>H | No | gnomAD | |
| rs1366777912 | 15 | R>L | No | gnomAD | |
| rs368560421 | 17 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs368560421 | 17 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs375488664 | 18 | I>L | No |
ESP TOPMed gnomAD |
|
| rs375488664 | 18 | I>V | No |
ESP TOPMed gnomAD |
|
| rs1304302196 | 19 | P>L | No | gnomAD | |
| rs2033041600 | 20 | Q>* | No | TOPMed | |
| rs779302894 | 20 | Q>H | No |
ExAC gnomAD |
|
| rs1355186406 | 22 | I>M | No |
TOPMed gnomAD |
|
| rs1240189555 | 23 | Q>* | No | gnomAD | |
| rs368638005 | 23 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs368638005 | 23 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2033042109 | 25 | D>A | No | gnomAD | |
| rs772618612 | 25 | D>H | No |
ExAC gnomAD |
|
| rs767387768 | 27 | A>S | No |
ExAC gnomAD |
|
| rs773086243 | 27 | A>V | No |
ExAC gnomAD |
|
| rs372411876 | 28 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs753333007 | 29 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1323573287 | 29 | P>S | No | gnomAD | |
| rs754599779 | 30 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs909315713 | 31 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2033048605 | 31 | A>V | No | TOPMed | |
| rs1219587951 | 32 | A>S | No | gnomAD | |
| rs942098605 | 34 | L>P | No |
TOPMed gnomAD |
|
| rs1230104335 | 34 | L>V | No |
TOPMed gnomAD |
|
| rs2033048976 | 35 | K>* | No | TOPMed | |
| rs2033048976 | 35 | K>Q | No | TOPMed | |
| rs2033049128 | 37 | V>M | No | Ensembl | |
| rs1567690435 | 38 | C>R | No | TOPMed | |
| rs747562363 | 38 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs745907063 | 39 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs545622695 | 39 | D>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1370992710 | 39 | D>N | No | gnomAD | |
| rs769913599 | 40 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs775741916 | 40 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs746739651 | 41 | W>* | No |
ExAC gnomAD |
|
| rs1346933231 | 42 | S>N | No |
TOPMed gnomAD |
|
| rs1258781730 | 44 | T>M | No |
TOPMed gnomAD |
|
| rs1405086831 | 44 | T>P | No |
TOPMed gnomAD |
|
| rs200917226 | 45 | H>L | No |
1000Genomes ExAC gnomAD |
|
| rs1346895086 | 45 | H>Y | No | gnomAD | |
| rs1277490743 | 46 | S>A | No | gnomAD | |
| rs2142217169 | 46 | S>C | No | Ensembl | |
| rs1277490743 | 46 | S>P | No | gnomAD | |
| rs776579819 | 48 | R>G | No |
ExAC gnomAD |
|
| rs2033052895 | 48 | R>H | No | Ensembl | |
| rs776579819 | 48 | R>S | No |
ExAC gnomAD |
|
| rs2033053070 | 49 | Y>* | No | Ensembl | |
| rs769384439 | 49 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs1456167795 | 49 | Y>F | No | Ensembl | |
| rs1440891671 | 50 | A>T | No | gnomAD | |
| rs1181759365 | 50 | A>V | No | gnomAD | |
| rs1481475131 | 51 | L>R | No | TOPMed | |
| rs199919222 | 51 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1232965200 | 52 | Q>P | No |
TOPMed gnomAD |
|
| rs1232965200 | 52 | Q>R | No |
TOPMed gnomAD |
|
|
COSM703887 rs762228993 |
54 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs895361445 | 54 | A>T | No |
TOPMed gnomAD |
|
| rs762228993 | 54 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1468422323 | 55 | D>G | No | gnomAD | |
| rs750988812 | 55 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs750988812 | 55 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs780235444 | 57 | H>R | No |
ExAC gnomAD |
|
| rs1597279122 | 57 | H>Y | No | Ensembl | |
| rs753801668 | 58 | R>Q | No |
ExAC gnomAD |
|
| rs1390850096 | 58 | R>W | No | gnomAD | |
| rs755197090 | 59 | R>K | No |
ExAC gnomAD |
|
| rs1200108365 | 61 | I>V | No | gnomAD | |
| rs958588121 | 62 | T>I | No |
TOPMed gnomAD |
|
| rs1249042585 | 63 | E>K | No |
TOPMed gnomAD |
|
| rs201855009 | 64 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1380153525 | 65 | N>K | No |
TOPMed gnomAD |
|
| rs779819882 | 66 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs748829804 | 66 | R>H | No |
ExAC gnomAD |
|
| rs748829804 | 66 | R>L | No |
ExAC gnomAD |
|
| rs1244535255 | 67 | A>V | No | gnomAD | |
| rs773970118 | 69 | I>M | No |
ExAC gnomAD |
|
| rs2142217557 | 69 | I>T | No | Ensembl | |
| rs2033059955 | 70 | K>N | No | TOPMed | |
| rs2033060010 | 71 | N>I | No | Ensembl | |
| rs1597279298 | 71 | N>K | No | Ensembl | |
| rs2033060356 | 75 | L>M | No | TOPMed | |
| rs2033060441 | 75 | L>P | No | TOPMed | |
| rs2033060441 | 75 | L>Q | No | TOPMed | |
| rs2142217594 | 76 | C>G | No | Ensembl | |
| rs1264330928 | 76 | C>S | No | gnomAD | |
| rs2033060795 | 77 | L>F | No |
TOPMed gnomAD |
|
| rs2033060860 | 78 | S>I | No | TOPMed | |
| rs771565853 | 78 | S>R | No |
ExAC gnomAD |
|
| rs773629922 | 79 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs773629922 | 79 | T>R | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs1874095407 |
80 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs200097822 | 81 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs200097822 | 81 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1365212604 | 83 | L>P | No |
TOPMed gnomAD |
|
| rs2033066170 | 84 | E>A | No | TOPMed | |
| rs541007473 | 85 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1203241423 | 86 | E>K | No | gnomAD | |
| rs902946180 | 87 | Q>H | No | Ensembl | |
| rs1261459984 | 87 | Q>K | No | gnomAD | |
| rs775555328 | 87 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs764403831 | 90 | G>A | No |
ExAC gnomAD |
|
| rs1597279495 | 91 | G>E | No | Ensembl | |
| rs1390699143 | 91 | G>W | No |
TOPMed gnomAD |
|
| rs2142217920 | 92 | L>R | No | Ensembl | |
|
rs8058861 VAR_055403 |
95 | N>D | No |
UniProt 1000Genomes ESP TOPMed dbSNP gnomAD |
|
| rs8058861 | 95 | N>Y | No |
1000Genomes ESP TOPMed gnomAD |
|
| rs1479928762 | 96 | S>C | No |
TOPMed gnomAD |
|
| rs2033067310 | 97 | P>H | No | TOPMed | |
| rs2033067310 | 97 | P>L | No | TOPMed | |
| rs1173851581 | 99 | G>R | No |
TOPMed gnomAD |
|
| rs780572116 | 100 | R>C | No |
ExAC gnomAD |
|
| rs780572116 | 100 | R>G | No |
ExAC gnomAD |
|
|
COSM4061790 rs754967465 |
100 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1354531329 | 101 | R>Q | No | gnomAD | |
| rs533198861 | 101 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2033067832 | 102 | E>* | No | Ensembl | |
| rs200290034 | 103 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs796369040 | 103 | A>V | No | Ensembl | |
| rs1295691326 | 104 | L>M | No |
TOPMed gnomAD |
|
| rs1295691326 | 104 | L>V | No |
TOPMed gnomAD |
|
| rs2033068127 | 105 | R>K | No | TOPMed | |
| rs1223225174 | 106 | R>H | No | gnomAD | |
| rs1223225174 | 106 | R>L | No | gnomAD | |
| rs1223225174 | 106 | R>P | No | gnomAD | |
| rs894354171 | 107 | L>F | No | gnomAD | |
| rs1281633264 | 109 | P>L | No |
TOPMed gnomAD |
|
| rs1281633264 | 109 | P>Q | No |
TOPMed gnomAD |
|
| rs1208690504 | 110 | L>R | No |
TOPMed gnomAD |
|
| rs201579675 | 112 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201579675 | 112 | S>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1223633595 | 113 | D>A | No |
TOPMed gnomAD |
|
| rs1223633595 | 113 | D>G | No |
TOPMed gnomAD |
|
| rs745751311 | 113 | D>N | No | TOPMed | |
| rs1269463568 | 114 | M>V | No |
TOPMed gnomAD |
|
| rs570176557 | 115 | I>S | No |
1000Genomes ExAC gnomAD |
|
| rs1296606151 | 117 | A>V | No | TOPMed | |
| rs1475528667 | 120 | V>I | No |
TOPMed gnomAD |
|
| rs763498567 | 123 | R>C | No |
ExAC gnomAD |
|
| rs201206921 | 123 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs763498567 | 123 | R>S | No |
ExAC gnomAD |
|
| rs774488380 | 124 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs774488380 | 124 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs531083390 | 125 | G>A | No |
1000Genomes ExAC gnomAD |
|
| rs1366675560 | 125 | G>R | No | gnomAD | |
| rs753713994 | 126 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1304008885 | 127 | Q>P | No |
TOPMed gnomAD |
|
| rs2142218107 | 128 | I>R | No | Ensembl | |
| rs2033070137 | 129 | L>R | No | Ensembl | |
| rs765098402 | 130 | G>S | No |
ExAC gnomAD |
|
| rs2033070437 | 131 | T>A | No | TOPMed | |
| rs1451679652 | 131 | T>S | No |
TOPMed gnomAD |
|
| rs2033070695 | 133 | I>T | No | TOPMed | |
| rs200393647 | 135 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs780785375 | 137 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2033070940 | 137 | D>N | No | TOPMed | |
| rs2033070940 | 137 | D>Y | No | TOPMed | |
| rs201641837 | 138 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM972342 rs201641837 |
138 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs373446239 | 139 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1267110280 | 140 | G>R | No |
TOPMed gnomAD |
|
| rs1277545934 | 141 | E>G | No | gnomAD | |
| rs2033074400 | 141 | E>K | No | Ensembl | |
| rs553420551 | 142 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs376143115 | 144 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs771217814 | 145 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs762771202 | 146 | S>C | No |
ExAC gnomAD |
|
| rs990020119 | 146 | S>N | No | gnomAD | |
| rs763962241 | 146 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs990020119 | 146 | S>T | No | gnomAD | |
| rs2033075210 | 147 | L>Q | No | Ensembl | |
| rs761708248 | 147 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs749926112 | 148 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs370571157 | 149 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs373706784 | 149 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs755417338 | 151 | S>* | No |
ExAC TOPMed gnomAD |
|
| rs1468300086 | 153 | L>I | No | gnomAD | |
| rs2033075535 | 154 | M>T | No | TOPMed | |
| rs565642405 | 155 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs747018436 | 157 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs376353251 | 157 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs199678800 | 158 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2033076133 | 159 | V>G | No | TOPMed | |
| rs746057451 | 160 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs774013584 | 165 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs2033076704 | 166 | I>L | No | Ensembl | |
| rs2142218479 | 169 | V>G | No | Ensembl | |
| rs1490946050 | 169 | V>L | No |
TOPMed gnomAD |
|
| rs1490946050 | 169 | V>M | No |
TOPMed gnomAD |
|
| rs1268730208 | 170 | R>K | No |
TOPMed gnomAD |
|
| rs1268730208 | 170 | R>T | No |
TOPMed gnomAD |
|
| rs764729081 | 172 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1485663222 | 172 | V>M | No | gnomAD | |
| rs374934575 | 175 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs573787084 | 176 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs764532281 | 176 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2033080908 | 177 | N>D | No | Ensembl | |
| rs1334836180 | 178 | M>V | No |
TOPMed gnomAD |
|
| rs2033081052 | 180 | L>F | No | TOPMed | |
| rs1159553380 | 181 | M>V | No | gnomAD | |
| rs1416269478 | 183 | A>S | No |
TOPMed gnomAD |
|
| rs185811006 | 185 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs185811006 | 185 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs756367513 | 186 | P>L | No |
ExAC gnomAD |
|
| rs1390636241 | 186 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs780213543 | 188 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs780213543 | 188 | L>Q | No |
ExAC TOPMed gnomAD |
|
| rs749487251 | 189 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs749487251 | 189 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs758227837 | 189 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2033082084 | 190 | L>F | No | Ensembl | |
| rs2142218797 | 191 | G>A | No | Ensembl | |
| rs1225900603 | 191 | G>R | No | gnomAD | |
| rs1443689683 | 192 | L>P | No |
TOPMed gnomAD |
|
| rs1316594987 | 193 | L>V | No |
TOPMed gnomAD |
|
| rs559407158 | 194 | E>* | No |
1000Genomes ExAC gnomAD |
|
| rs1265176617 | 194 | E>G | No | gnomAD | |
| rs559407158 | 194 | E>Q | No |
1000Genomes ExAC gnomAD |
|
| rs2033082600 | 195 | S>C | No | Ensembl | |
| rs2033082600 | 195 | S>R | No | Ensembl | |
| rs1597280055 | 196 | V>A | No | Ensembl | |
| rs1276029322 | 196 | V>M | No | TOPMed | |
| rs1235728458 | 197 | T>P | No | gnomAD | |
| rs2033083037 | 198 | L>F | No | Ensembl | |
| rs776209931 | 199 | S>G | No |
ExAC gnomAD |
|
| rs1343302844 | 199 | S>R | No |
TOPMed gnomAD |
|
| rs1406943289 | 202 | A>S | No | gnomAD | |
| rs1226650242 | 202 | A>V | No |
TOPMed gnomAD |
|
| rs1417045954 | 203 | L>V | No | gnomAD | |
| rs769590815 | 205 | Q>H | No |
ExAC gnomAD |
|
| rs1567691423 | 206 | L>R | No | Ensembl | |
| rs775334006 | 207 | V>I | No |
ExAC gnomAD |
|
| rs1290944149 | 209 | S>N | No | gnomAD | |
| rs533323363 | 209 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs764620212 | 210 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2033083761 | 211 | V>L | No | Ensembl | |
| rs774566864 | 212 | P>T | No |
ExAC gnomAD |
|
| rs1299202998 | 214 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs545426930 | 215 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2033084290 | 216 | L>V | No | Ensembl | |
| rs2142218955 | 217 | L>P | No | Ensembl | |
| rs756102010 | 218 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs369829735 | 219 | H>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs369829735 | 219 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs372856258 | 221 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1597280144 | 222 | V>G | No | Ensembl | |
| rs1337934484 | 222 | V>M | No | gnomAD | |
| rs1364202992 | 223 | M>I | No |
TOPMed gnomAD |
|
| rs762048573 | 224 | N>S | No |
ExAC gnomAD |
|
| rs2033087688 | 225 | Q>* | No | Ensembl | |
| rs1023731824 | 225 | Q>L | No |
TOPMed gnomAD |
|
| rs1410525795 | 226 | Q>* | No |
TOPMed gnomAD |
|
| rs2142219119 | 226 | Q>L | No | Ensembl | |
| rs773629483 | 228 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs773629483 | 228 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1320673110 | 229 | T>S | No |
TOPMed gnomAD |
|
| rs1224521627 | 230 | K>R | No | gnomAD | |
| rs1353774185 | 232 | M>I | No |
TOPMed gnomAD |
|
| rs567828163 | 232 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs146570069 | 232 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2033088409 | 235 | L>R | No | Ensembl | |
| rs1207931572 | 236 | T>I | No | gnomAD | |
| rs755197073 | 237 | A>D | No |
ExAC gnomAD |
|
| rs755197073 | 237 | A>V | No |
ExAC gnomAD |
|
| rs982600873 | 238 | L>S | No | TOPMed | |
| rs957078837 | 239 | L>M | No |
TOPMed gnomAD |
|
| rs751390356 | 239 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs781010131 | 241 | G>A | No |
ExAC gnomAD |
|
| rs776602057 | 241 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1424372481 | 242 | A>P | No | gnomAD | |
| rs756107409 | 242 | A>V | No |
ExAC gnomAD |
|
| rs1255571864 | 243 | S>G | No |
TOPMed gnomAD |
|
| rs779724751 | 243 | S>N | No |
ExAC gnomAD |
|
| rs748743939 | 244 | P>L | No |
ExAC gnomAD |
|
| rs1269659597 | 246 | E>G | No | gnomAD | |
| rs768458298 | 247 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs899019977 | 247 | R>H | No |
TOPMed gnomAD |
|
| rs899019977 | 247 | R>L | No |
TOPMed gnomAD |
|
| rs2033089823 | 248 | K>E | No | TOPMed | |
| rs367806941 | 250 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs201664710 | 250 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2033105205 | 251 | L>F | No | Ensembl | |
| rs1200275070 | 251 | L>P | No | gnomAD | |
| rs746433041 | 252 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs142253282 | 252 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2033105489 | 253 | Y>C | No | TOPMed | |
| rs775438147 | 254 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1597280792 | 255 | W>* | No | Ensembl | |
| rs774765515 | 255 | W>C | No |
ExAC gnomAD |
|
| rs749348890 | 255 | W>G | No |
ExAC TOPMed gnomAD |
|
| rs749348890 | 255 | W>R | No |
ExAC TOPMed gnomAD |
|
| rs1353830325 | 257 | R>K | No |
TOPMed gnomAD |
|
| rs2033105943 | 258 | N>D | No | Ensembl | |
| rs377314519 | 258 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs762100224 | 258 | N>S | No |
ExAC gnomAD |
|
| rs1300119622 | 259 | L>F | No |
TOPMed gnomAD |
|
| rs1300119622 | 259 | L>I | No |
TOPMed gnomAD |
|
| rs765179389 | 260 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs369916018 | 260 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1792736997 | 261 | Q>* | No |
TOPMed gnomAD |
|
| rs757973944 | 264 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs763563032 | 265 | K>E | No |
ExAC gnomAD |
|
| rs1175799590 | 265 | K>N | No | TOPMed | |
| rs911750078 | 266 | N>D | No | Ensembl | |
| rs1445085105 | 269 | H>D | No | gnomAD | |
| rs1405692859 | 269 | H>Q | No |
TOPMed gnomAD |
|
| rs2033108996 | 270 | S>G | No | Ensembl | |
| rs1366403391 | 270 | S>N | No | gnomAD | |
| rs1454993559 | 270 | S>R | No | gnomAD | |
| rs906403275 | 271 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2033109305 | 272 | A>V | No |
TOPMed gnomAD |
|
| rs756553568 | 273 | P>S | No |
ExAC gnomAD |
|
| rs756553568 | 273 | P>T | No |
ExAC gnomAD |
|
| rs1567692045 | 274 | M>T | No |
TOPMed gnomAD |
|
| rs780253107 | 274 | M>V | No |
ExAC gnomAD |
|
| rs2033109615 | 275 | G>D | No | Ensembl | |
| rs754439840 | 275 | G>R | No |
ExAC gnomAD |
|
| rs779134617 | 276 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs369051966 | 277 | E>K | No |
ESP ExAC gnomAD |
|
| rs2033110058 | 278 | M>L | No |
TOPMed gnomAD |
|
| rs2033110133 | 278 | M>T | No | Ensembl | |
| rs1400488528 | 279 | A>V | No | TOPMed | |
| rs1328601704 | 280 | H>Q | No | gnomAD | |
| rs747167131 | 280 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs371124873 | 282 | L>R | No |
ESP TOPMed gnomAD |
|
| rs2033110698 | 284 | V>A | No | TOPMed | |
| rs183146864 | 284 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1461694401 | 285 | L>P | No |
TOPMed gnomAD |
|
| rs2033110909 | 286 | Q>R | No |
TOPMed gnomAD |
|
| rs1259178533 | 287 | A>V | No | TOPMed | |
| rs765489952 | 288 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1159392330 | 289 | M>I | No | gnomAD | |
| rs140352129 | 289 | M>R | No |
1000Genomes ExAC gnomAD |
|
| rs140352129 | 289 | M>T | No |
1000Genomes ExAC gnomAD |
|
| rs773884075 | 289 | M>V | No |
ExAC gnomAD |
|
| rs2033111244 | 291 | G>E | No | gnomAD | |
| rs199860236 | 293 | L>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1415341965 | 294 | E>G | No | Ensembl | |
| rs2033111518 | 294 | E>Q | No | gnomAD | |
| rs766828979 | 295 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs766828979 | 295 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs779511488 | 296 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs367683482 | 296 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs557316702 | 297 | M>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1393444284 | 297 | M>T | No | gnomAD | |
| rs557316702 | 297 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs777708052 | 298 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs777708052 COSM471927 |
298 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1289225690 | 298 | R>W | No |
TOPMed gnomAD |
|
| rs973161117 | 299 | T>A | No |
TOPMed gnomAD |
|
| rs200012079 | 299 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2033112667 | 301 | L>V | No | Ensembl | |
| rs768605277 | 302 | D>Y | No |
ExAC gnomAD |
|
| rs774323005 | 303 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs542665221 | 303 | P>H | No |
1000Genomes ExAC gnomAD |
|
| rs542665221 | 303 | P>L | No |
1000Genomes ExAC gnomAD |
|
| rs542665221 | 303 | P>R | No |
1000Genomes ExAC gnomAD |
|
| rs774323005 | 303 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2033113143 | 305 | S>C | No | gnomAD | |
| rs1350679950 | 307 | E>G | No |
TOPMed gnomAD |
|
| rs1305192050 | 307 | E>Q | No | gnomAD | |
| rs770450376 | 309 | R>L | No |
ExAC TOPMed gnomAD |
|
|
COSM3999895 rs770450376 |
309 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs79736950 | 309 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs765753879 | 310 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs1296720194 | 311 | Q>* | No | gnomAD | |
| rs1296720194 | 311 | Q>K | No | gnomAD | |
| rs1004898980 | 313 | Q>H | No | TOPMed | |
|
VAR_055404 rs33948247 |
316 | R>C | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1290234334 | 316 | R>H | No |
TOPMed gnomAD |
|
| rs1218789969 | 318 | A>T | No | gnomAD | |
| rs2142220703 | 319 | A>T | No | 1000Genomes | |
| rs946624385 | 321 | E>K | No |
TOPMed gnomAD |
|
| rs2033117275 | 322 | V>M | No | TOPMed | |
| rs1165349276 | 323 | E>D | No |
TOPMed gnomAD |
|
| rs370005444 | 325 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs751447505 | 325 | E>Q | No | Ensembl | |
| rs370005444 | 325 | E>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs767605719 | 326 | S>C | No |
ExAC gnomAD |
|
| rs1321784874 | 326 | S>P | No | gnomAD | |
| rs61735429 | 327 | S>A | No |
ExAC gnomAD |
|
| rs200639831 | 327 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs61735429 | 327 | S>P | No |
ExAC gnomAD |
|
| rs200639831 | 327 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs1454432130 | 328 | G>C | No | gnomAD | |
| rs201796351 | 328 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1226276761 | 330 | G>R | No |
TOPMed gnomAD |
|
| rs746931182 | 332 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs770411417 | 332 | S>N | No |
ExAC gnomAD |
|
| rs746931182 | 332 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs776266737 | 333 | A>G | No |
ExAC gnomAD |
|
| rs776266737 | 333 | A>V | No |
ExAC gnomAD |
|
| rs745529398 | 335 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs532593956 | 335 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs572778974 | 336 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs763179548 | 336 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs147009177 | 337 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs377324421 | 337 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs762380682 | 338 | S>T | No |
ExAC gnomAD |
|
| rs1334679184 | 339 | L>F | No | gnomAD | |
| rs1339666143 | 340 | C>R | No | gnomAD | |
| rs767645603 | 341 | A>D | No |
ExAC gnomAD |
|
| rs767645603 | 341 | A>V | No |
ExAC gnomAD |
|
| rs750448202 | 342 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs757174577 | 342 | R>P | No |
TOPMed gnomAD |
|
| rs757174577 | 342 | R>Q | No |
TOPMed gnomAD |
|
| rs988478157 | 343 | E>K | No | TOPMed | |
| rs767005065 | 345 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs766535773 COSM5565903 |
345 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2033119998 | 346 | K>T | No | TOPMed | |
| rs1279884832 | 348 | G>A | No |
TOPMed gnomAD |
|
| rs754034610 | 348 | G>C | No |
ExAC gnomAD |
|
| rs1442215997 | 350 | S>F | No | gnomAD | |
| rs2033123442 | 351 | N>D | No | Ensembl | |
| rs772399114 | 351 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs2033123499 | 351 | N>S | No | TOPMed | |
| rs773744977 | 352 | S>G | No |
ExAC gnomAD |
|
| rs1301950521 | 352 | S>N | No | TOPMed | |
| rs1301950521 | 352 | S>T | No | TOPMed | |
| rs2033123904 | 353 | N>I | No | TOPMed | |
| rs546704790 | 355 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs776713369 | 356 | Q>* | No |
ExAC gnomAD |
|
| rs1448716950 | 356 | Q>R | No | gnomAD | |
| rs200716343 | 357 | D>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2033124475 | 358 | L>P | No | gnomAD | |
| rs948090467 | 358 | L>V | No | gnomAD | |
| rs2033124530 | 359 | E>Q | No | gnomAD | |
| rs370040668 | 360 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs370040668 | 360 | R>G | No |
ESP TOPMed gnomAD |
|
| rs765459031 | 360 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs370040668 | 360 | R>S | No |
ESP TOPMed gnomAD |
|
|
COSM4061791 rs375789407 |
361 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs575196946 | 362 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1047316716 | 362 | P>S | No |
TOPMed gnomAD |
|
| rs750454514 | 363 | P>H | No |
ExAC gnomAD |
|
| rs750454514 | 363 | P>R | No |
ExAC gnomAD |
|
| rs1319077122 | 364 | G>C | No |
TOPMed gnomAD |
|
| rs753325917 | 364 | G>D | No |
ExAC TOPMed gnomAD |
|
|
rs1319077122 COSM1205208 |
364 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs866855488 | 365 | L>M | No | Ensembl | |
| rs1265026433 | 367 | A>T | No | gnomAD | |
| rs754622239 | 368 | L>P | No |
ExAC gnomAD |
|
| rs1350558307 | 368 | L>V | No |
TOPMed gnomAD |
|
| rs778584033 | 369 | D>G | No |
ExAC gnomAD |
|
| rs201952611 | 370 | N>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1186488976 | 370 | N>K | No | gnomAD | |
| rs373903466 | 371 | M>I | No |
ESP ExAC gnomAD |
|
| rs2033126264 | 371 | M>T | No | Ensembl | |
| rs2033126566 | 372 | L>F | No |
TOPMed gnomAD |
|
|
COSM4061792 rs2033126509 |
372 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1555555175 | 373 | Y>C | No | Ensembl | |
| rs776604078 | 378 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs374051275 | 378 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776604078 COSM1205209 |
378 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs979317943 | 380 | S>R | No |
TOPMed gnomAD |
|
| rs555214160 | 381 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs555214160 | 381 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs767484803 | 381 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2033127461 | 383 | S>R | No | Ensembl | |
| rs2033127515 | 384 | R>G | No |
TOPMed gnomAD |
|
| rs766287449 | 384 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs2033127515 | 384 | R>W | No |
TOPMed gnomAD |
|
| rs1267902104 | 385 | F>L | No | gnomAD | |
| rs756509141 | 386 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs756509141 | 386 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2142221373 | 387 | L>M | No | Ensembl | |
| rs368446112 | 389 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs530322476 | 392 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1393683918 | 392 | R>H | No |
TOPMed gnomAD |
|
| rs1393683918 | 392 | R>L | No |
TOPMed gnomAD |
|
| rs1277550222 | 393 | E>D | No | Ensembl | |
| rs564154553 | 393 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs192034781 | 395 | K>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs192034781 | 395 | K>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1440169612 | 396 | H>Y | No | gnomAD | |
| rs769571656 | 397 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs775013467 | 397 | E>D | No |
ExAC gnomAD |
|
| rs769571656 | 397 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1028159648 | 398 | C>F | No | TOPMed | |
| rs1301084932 | 399 | P>L | No | gnomAD | |
| rs762491613 | 401 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs762491613 | 401 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs185614573 | 402 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs185614573 | 402 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs142151904 | 402 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs761366248 | 406 | Q>* | No |
ExAC gnomAD |
|
| rs767927396 | 408 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1169596278 | 412 | C>W | No | gnomAD | |
| rs754363104 | 413 | E>D | No |
ExAC gnomAD |
|
| rs973226171 | 414 | L>M | No | TOPMed | |
| rs1408461400 | 414 | L>P | No | gnomAD | |
| rs779134366 | 415 | L>F | No |
ExAC gnomAD |
|
| rs201968221 | 416 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs758495127 | 416 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs781065231 | 417 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs375057170 | 418 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs375057170 | 418 | G>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs2033133729 | 420 | P>R | No | TOPMed | |
| rs747232513 | 421 | C>* | No |
ExAC gnomAD |
|
| rs1236318866 | 421 | C>F | No |
TOPMed gnomAD |
|
| rs755961572 | 424 | T>I | No |
ExAC gnomAD |
|
| rs749228064 | 426 | Q>E | No |
ExAC gnomAD |
|
| rs773932557 | 429 | S>L | No |
ExAC gnomAD |
|
| rs747568222 | 430 | P>L | No |
ExAC gnomAD |
|
| rs1238318633 | 430 | P>S | No |
TOPMed gnomAD |
|
| rs201015151 | 434 | G>C | No |
1000Genomes ExAC gnomAD |
|
| rs201015151 | 434 | G>R | No |
1000Genomes ExAC gnomAD |
|
| rs201015151 | 434 | G>S | No |
1000Genomes ExAC gnomAD |
|
| rs760357896 | 435 | Q>* | No |
ExAC gnomAD |
|
| rs766859271 | 436 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs969423279 | 437 | Q>* | No | Ensembl | |
| rs2033137418 | 437 | Q>H | No | Ensembl | |
| rs1567692877 | 437 | Q>R | No | gnomAD | |
| rs1483781375 | 438 | S>N | No |
TOPMed gnomAD |
|
| rs769997452 | 440 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs78664266 | 441 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1028210656 | 442 | L>F | No |
TOPMed gnomAD |
|
| rs1350572476 | 444 | C>S | No | gnomAD | |
| rs762993595 | 444 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs981140510 | 445 | V>M | No | Ensembl | |
| rs751796086 | 446 | G>D | No |
ExAC gnomAD |
|
| rs751796086 | 446 | G>V | No |
ExAC gnomAD |
|
| rs779836525 | 451 | N>S | No |
ExAC gnomAD |
|
| rs1483463306 | 453 | T>I | No | gnomAD | |
| rs1202577625 | 454 | W>G | No | gnomAD | |
| rs1181141778 | 454 | W>S | No | gnomAD | |
| rs1362027821 | 455 | K>E | No | gnomAD | |
| rs1478984459 | 456 | E>A | No | gnomAD | |
| rs1193304626 | 456 | E>D | No |
TOPMed gnomAD |
|
| rs200124982 | 458 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs1394263471 COSM972345 |
458 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs200124982 | 458 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2033139308 | 460 | T>I | No | Ensembl | |
| rs1432559029 | 462 | E>K | No | gnomAD | |
| rs1309541418 | 463 | D>V | No | gnomAD | |
| rs777274132 | 465 | D>E | No |
ExAC gnomAD |
|
|
COSM3794984 rs201129653 |
465 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD |
| rs1326244456 | 465 | D>V | No | gnomAD | |
| rs745504884 | 468 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs2033142871 | 469 | Q>R | No |
TOPMed gnomAD |
|
| rs770123138 | 472 | R>Q | No |
ExAC gnomAD |
|
| rs1190586519 | 472 | R>W | No |
TOPMed gnomAD |
|
| rs1163558829 | 475 | L>P | No |
TOPMed gnomAD |
|
| rs369708381 | 477 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs763382419 | 477 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs2142222015 | 478 | T>A | No | Ensembl | |
| rs1386137902 | 481 | L>P | No |
TOPMed gnomAD |
|
| rs774445352 | 483 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs774445352 | 483 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1335045326 | 484 | T>I | No |
TOPMed gnomAD |
|
| rs2033143902 | 485 | S>F | No | gnomAD | |
| rs761918823 | 487 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs761918823 | 487 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs919968230 | 488 | L>F | No | TOPMed | |
| rs184456061 | 490 | R>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs773477156 | 490 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs760878697 | 492 | K>N | No |
ExAC gnomAD |
|
| rs1485461315 | 493 | V>A | No | gnomAD | |
| rs969686532 | 493 | V>M | No |
TOPMed gnomAD |
|
| rs188685815 | 495 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs188685815 | 495 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs188685815 | 495 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs758302368 | 496 | L>F | No |
ExAC gnomAD |
|
| rs369471428 | 497 | T>I | No |
ESP TOPMed gnomAD |
|
| rs1456193077 | 499 | G>R | No | TOPMed | |
| rs372500728 | 500 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1364864744 | 501 | V>L | No | gnomAD | |
| rs1364864744 | 501 | V>M | No | gnomAD | |
| rs370963737 | 503 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs375742012 | 503 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs745521301 | 505 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1353650960 | 505 | R>L | No |
TOPMed gnomAD |
|
| rs1353650960 | 505 | R>Q | No |
TOPMed gnomAD |
|
| rs745521301 | 505 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs917601055 | 507 | T>A | No |
TOPMed gnomAD |
|
| rs528064838 | 507 | T>N | No | gnomAD | |
| rs780304197 | 508 | E>Q | No |
ExAC gnomAD |
|
| rs749623099 | 509 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs944999898 | 509 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2142222154 | 511 | H>Y | No | Ensembl | |
| rs1254951782 | 512 | Q>H | No | gnomAD | |
| rs2033146603 | 513 | E>K | No |
TOPMed gnomAD |
|
| rs774884707 | 514 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs775745815 | 515 | T>S | No | Ensembl | |
| rs1409403666 | 517 | A>D | No | gnomAD | |
| rs1409403666 | 517 | A>V | No | gnomAD | |
| rs1419036031 | 518 | P>S | No | gnomAD | |
| rs1207632803 | 519 | P>A | No |
TOPMed gnomAD |
|
| rs1355227540 | 519 | P>L | No |
TOPMed gnomAD |
|
| rs1042140249 | 520 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs772203153 | 521 | L>P | No |
ExAC gnomAD |
|
| rs542132503 | 524 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs759674356 | 524 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs542132503 | 524 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1305314203 | 526 | K>* | No |
TOPMed gnomAD |
|
| rs774231797 | 526 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2033157041 | 526 | K>R | No | Ensembl | |
| rs1469284953 | 529 | P>R | No | gnomAD | |
| rs750294370 | 532 | M>T | No |
ExAC gnomAD |
|
| rs767521641 | 532 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1476563636 | 533 | G>R | No | gnomAD | |
| rs760280102 | 536 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs760280102 | 536 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs753590746 | 536 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs760280102 | 536 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1395248334 | 538 | Q>E | No | gnomAD | |
| rs927521349 | 538 | Q>H | No |
TOPMed gnomAD |
|
| rs980163057 | 538 | Q>P | No | TOPMed | |
|
COSM972346 rs1323734046 |
539 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
COSM972347 rs779259992 |
539 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1194966533 | 540 | L>W | No | TOPMed | |
| rs376215282 | 542 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs758736244 | 542 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs376215282 | 542 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1333470154 | 543 | L>F | No |
TOPMed gnomAD |
|
| rs1213637734 | 545 | E>D | No | gnomAD | |
| rs1271816991 | 546 | G>A | No | gnomAD | |
| rs1271816991 | 546 | G>E | No | gnomAD | |
| rs2033158830 | 546 | G>R | No | TOPMed | |
| rs145897231 | 547 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs145897231 | 547 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2033159216 | 548 | L>I | No | gnomAD | |
| rs1485029491 | 549 | F>L | No | gnomAD | |
| rs770093436 | 550 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs770093436 | 550 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs200999666 | 550 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1323110359 | 551 | K>E | No | gnomAD | |
| rs760522173 | 555 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs773257749 | 555 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200475452 | 556 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs765916368 | 556 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs759220966 | 557 | R>C | No |
ExAC gnomAD |
|
| rs764912041 | 557 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs867301547 | 558 | Q>* | No |
TOPMed gnomAD |
|
| rs1040984432 | 558 | Q>R | No |
TOPMed gnomAD |
|
| rs867225573 | 559 | D>N | No |
TOPMed gnomAD |
|
| rs1169221992 | 561 | L>P | No | gnomAD | |
| rs776602673 | 565 | C>Y | No |
ExAC gnomAD |
|
| rs921462504 | 566 | L>R | No | Ensembl | |
| rs1163068408 | 567 | S>F | No |
TOPMed gnomAD |
|
| rs1163068408 | 567 | S>Y | No |
TOPMed gnomAD |
|
| rs967629225 | 568 | P>T | No |
TOPMed gnomAD |
|
| rs1176834063 | 570 | H>Q | No |
TOPMed gnomAD |
|
| rs2033164882 | 571 | K>R | No | Ensembl | |
|
COSM4061794 rs1370661101 |
574 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs201007264 | 574 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs199912356 | 576 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1597282547 | 577 | D>H | No | Ensembl | |
| rs1229021603 | 578 | M>I | No | Ensembl | |
| rs181118068 | 578 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751822849 | 578 | M>V | No |
ExAC gnomAD |
|
| rs767948250 | 579 | E>G | No |
ExAC gnomAD |
|
| rs1252154974 | 580 | E>K | No | gnomAD | |
| rs200756614 | 582 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200756614 | 582 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs780276869 | 584 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1394216829 | 586 | T>I | No |
TOPMed gnomAD |
|
| rs373878246 | 588 | E>* | No |
TOPMed gnomAD |
|
| rs755095540 | 588 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs913667089 | 588 | E>G | No | TOPMed | |
| rs373878246 | 588 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1401703158 | 589 | S>N | No |
TOPMed gnomAD |
|
| rs777642994 | 590 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs1226913556 | 591 | P>S | No | gnomAD | |
| rs776495027 | 592 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2142222877 | 593 | Q>* | No | Ensembl | |
| rs745804278 | 594 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1393068360 | 595 | P>L | No | gnomAD | |
| rs1211605085 | 595 | P>S | No | TOPMed | |
| rs779572599 | 596 | V>E | No |
ExAC gnomAD |
|
| rs1675170290 | 597 | A>T | No | TOPMed | |
| rs372535271 | 598 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2033170445 | 599 | M>T | No | TOPMed | |
| rs2033170380 | 599 | M>V | No | gnomAD | |
| rs998249599 | 600 | R>G | No |
TOPMed gnomAD |
|
| rs998249599 | 600 | R>W | No |
TOPMed gnomAD |
|
| rs2033170600 | 601 | A>T | No | TOPMed | |
| rs2033170657 | 601 | A>V | No | TOPMed | |
| rs201945329 | 603 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1253748119 | 605 | G>A | No | gnomAD | |
| rs1253748119 | 605 | G>D | No | gnomAD | |
| rs1251864172 | 607 | D>E | No |
TOPMed gnomAD |
|
| rs1179524156 | 607 | D>N | No | gnomAD | |
| rs572696490 | 608 | C>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs572696490 | 608 | C>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2033171501 | 609 | P>R | No |
TOPMed gnomAD |
|
| rs1177134328 | 609 | P>S | No | gnomAD | |
| rs766949318 | 610 | H>R | No |
ExAC gnomAD |
|
| rs199633228 | 612 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs371551984 | 612 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs199633228 | 612 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs985500645 | 613 | E>Q | No | TOPMed | |
| rs1395642067 | 615 | G>D | No | gnomAD | |
| rs2033172202 | 615 | G>S | No | TOPMed | |
| rs1371380502 | 617 | G>E | No | gnomAD | |
| rs758588451 | 617 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs780987799 | 618 | K>R | No |
ExAC gnomAD |
|
| rs750180351 | 619 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs750180351 | 619 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs755873776 | 619 | Q>P | No |
ExAC gnomAD |
|
| rs1256775878 | 621 | K>* | No | TOPMed | |
| rs779818334 | 622 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs888338326 | 624 | Y>* | No | TOPMed | |
| rs201946533 | 626 | L>F | No | 1000Genomes | |
| rs2033176449 | 628 | F>L | No | TOPMed | |
| rs753723331 | 629 | S>A | No |
ExAC TOPMed |
|
| rs747650688 | 630 | I>T | No |
ExAC gnomAD |
|
| rs778303839 | 630 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs937262446 | 631 | S>I | No | TOPMed | |
| rs937262446 | 631 | S>N | No | TOPMed | |
| rs2033177007 | 632 | Y>C | No | Ensembl | |
| rs757946655 | 633 | D>E | No |
ExAC gnomAD |
|
| rs376259103 | 634 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs560133039 | 634 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs560133039 | 634 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2033177408 | 637 | E>* | No | TOPMed | |
| rs777000286 | 638 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs770297130 | 639 | A>V | No |
ExAC gnomAD |
|
| rs2033177828 | 641 | L>V | No | TOPMed | |
| rs1488617659 | 642 | N>S | No |
TOPMed gnomAD |
|
| rs763071801 | 643 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs148378199 | 644 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2033178207 | 645 | A>D | No | TOPMed | |
| rs1719231423 | 645 | A>T | No | Ensembl | |
| rs761955738 | 646 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs142297883 | 646 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs766173749 | 647 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs781715436 | 649 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs781715436 | 649 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs753617002 | 649 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs765257236 | 650 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs939855083 | 652 | Y>C | No | gnomAD | |
| rs1470410379 | 653 | L>R | No | gnomAD | |
| rs767734666 | 654 | W>R | No |
ExAC gnomAD |
|
| rs1597283103 | 658 | L>F | No | Ensembl | |
| rs773271821 | 659 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs773271821 | 659 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs201149669 | 661 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs752688081 | 664 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs201713448 | 664 | S>R | No | Ensembl | |
| rs758357186 | 665 | P>L | No | ExAC | |
| rs751074379 | 666 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs2033181863 | 668 | S>I | No | TOPMed | |
| rs756798007 | 668 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs199505460 | 669 | E>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199505460 | 669 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs375483363 | 672 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs375483363 | 672 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs750032962 | 672 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs749808248 | 676 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2033182756 | 679 | L>Q | No | gnomAD | |
| rs1597283168 | 679 | L>V | No | TOPMed | |
| rs1421401251 | 681 | M>V | No | TOPMed | |
| rs1236152949 | 682 | E>K | No |
TOPMed gnomAD |
|
| rs778991760 | 683 | T>S | No |
ExAC gnomAD |
|
| rs2142223693 | 684 | K>E | No | Ensembl | |
| rs200503282 | 684 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM972348 rs572713732 |
686 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs572713732 | 686 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1378861 rs200461796 |
686 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1419559216 | 687 | L>V | No |
TOPMed gnomAD |
|
|
COSM1679173 rs769648209 |
689 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs769648209 | 689 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs372770751 | 690 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2033183984 | 691 | E>G | No | TOPMed | |
| rs2033183926 | 691 | E>K | No | Ensembl | |
| rs2033184230 | 693 | V>A | No | Ensembl | |
| rs558508593 | 693 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751522010 | 694 | P>S | No |
ExAC gnomAD |
|
| rs2033184434 | 696 | P>A | No | Ensembl | |
| rs766934035 | 697 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs200053811 | 698 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs200053811 | 698 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs750093350 | 698 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs959281871 | 699 | P>L | No | Ensembl | |
| rs1214070095 | 700 | P>L | No | gnomAD | |
| rs1054574985 | 700 | P>S | No | TOPMed | |
| rs755301340 | 701 | P>T | No | ExAC | |
| rs2033185612 | 702 | V>G | No | Ensembl | |
| rs1194796402 | 702 | V>L | No |
TOPMed gnomAD |
|
| rs1194796402 | 702 | V>M | No |
TOPMed gnomAD |
|
| rs779441744 | 703 | P>L | No |
ExAC gnomAD |
|
| rs2033185889 | 704 | P>L | No | gnomAD | |
| rs2033185889 | 704 | P>R | No | gnomAD | |
| rs983927841 | 705 | P>H | No | gnomAD | |
| rs983927841 | 705 | P>L | No | gnomAD | |
| rs2033186167 | 705 | P>S | No | Ensembl | |
| rs748638405 | 706 | P>L | No |
ExAC TOPMed gnomAD |
|
|
rs1422070220 COSM3510957 |
706 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1164217675 | 707 | T>I | No | gnomAD | |
| rs1292852221 | 707 | T>P | No | gnomAD | |
| rs1365872763 | 708 | N>H | No | gnomAD | |
| rs772259303 | 708 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2033187018 | 709 | F>I | No | Ensembl | |
| rs2033187018 | 709 | F>L | No | Ensembl | |
| rs374788979 | 710 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2142223906 | 711 | F>I | No | Ensembl | |
| rs1597283319 | 711 | F>L | No | Ensembl | |
| rs2033187439 | 712 | C>S | No | Ensembl | |
| rs997835943 | 713 | Y>H | No | TOPMed | |
| rs1260304954 | 714 | D>N | No |
TOPMed gnomAD |
|
| rs1260304954 | 714 | D>Y | No |
TOPMed gnomAD |
|
| rs561688262 | 715 | C>F | No |
ExAC TOPMed gnomAD |
|
| rs561688262 | 715 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs909628954 | 716 | S>G | No |
TOPMed gnomAD |
|
| rs909628954 | 716 | S>R | No |
TOPMed gnomAD |
|
| rs762891292 | 718 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1597283357 | 718 | A>V | No | Ensembl | |
| rs1353924971 | 720 | P>L | No | gnomAD |
No associated diseases with Q96BJ8
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell motility | Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. |
| phagocytosis | A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A4FUD6 | ELMO2 | Engulfment and cell motility protein 2 | Bos taurus (Bovine) | SS |
| Q8IZ81 | ELMOD2 | ELMO domain-containing protein 2 | Homo sapiens (Human) | PR |
| Q92556 | ELMO1 | Engulfment and cell motility protein 1 | Homo sapiens (Human) | EV |
| Q96JJ3 | ELMO2 | Engulfment and cell motility protein 2 | Homo sapiens (Human) | SS |
| Q8BHL5 | Elmo2 | Engulfment and cell motility protein 2 | Mus musculus (Mouse) | SS |
| Q8BPU7 | Elmo1 | Engulfment and cell motility protein 1 | Mus musculus (Mouse) | SS |
| Q8BYZ7 | Elmo3 | Engulfment and cell motility protein 3 | Mus musculus (Mouse) | SS |
| Q499U2 | Elmo3 | Engulfment and cell motility protein 3 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPPRNVVKI | AIKMRDAIPQ | LIQLDQAKPL | AAVLKEVCDA | WSLTHSERYA | LQFADGHRRY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ITENNRAEIK | NGSILCLSTA | PDLEAEQLLG | GLQSNSPEGR | REALRRLVPL | ASDMIFAREV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ISRNGLQILG | TIIEDGDDLG | EVLALSLRAF | SELMEHGVVS | WETLSIPFVR | KVVCYVNMNL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MDASVPPLAL | GLLESVTLSS | PALGQLVKSE | VPLDRLLVHL | QVMNQQLQTK | AMALLTALLQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GASPVERKHM | LDYLWQRNLR | QFIYKNIIHS | AAPMGDEMAH | HLYVLQALML | GLLEPRMRTP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LDPYSQEQRE | QLQVLRQAAF | EVEGESSGAG | LSADRRRSLC | AREFRKLGFS | NSNPAQDLER |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VPPGLLALDN | MLYFSRNAPS | AYSRFVLENS | SREDKHECPF | ARGSIQLTVL | LCELLRVGEP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CSETAQDFSP | MFFGQDQSFH | ELFCVGIQLL | NKTWKEMRAT | QEDFDKVMQV | VREQLARTLA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LKPTSLELFR | TKVNALTYGE | VLRLRQTERL | HQEGTLAPPI | LELREKLKPE | LMGLIRQQRL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LRLCEGTLFR | KISSRRRQDK | LWFCCLSPNH | KLLQYGDMEE | GASPPTLESL | PEQLPVADMR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ALLTGKDCPH | VREKGSGKQN | KDLYELAFSI | SYDRGEEEAY | LNFIAPSKRE | FYLWTDGLSA |
| 670 | 680 | 690 | 700 | 710 | |
| LLGSPMGSEQ | TRLDLEQLLT | METKLRLLEL | ENVPIPERPP | PVPPPPTNFN | FCYDCSIAEP |