Q9H4A9
Gene name |
DPEP2 (UNQ284/PRO323) |
Protein name |
Dipeptidase 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64174 |
EC number |
3.4.13.19: Dipeptidases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9H4A9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H4A9-F1 | Predicted | AlphaFoldDB |
459 variants for Q9H4A9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA283210398 rs543813120 |
3 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA396416397 rs1449916065 |
4 | S>F | No |
ClinGen gnomAD |
|
|
rs991058819 CA283210397 |
5 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA283210394 rs867172890 |
7 | E>* | No |
ClinGen Ensembl |
|
|
rs867172890 CA396416370 |
7 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 7 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753922139 CA8123351 |
8 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8123350 rs374420900 |
9 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396416326 rs1220243915 |
10 | G>C | No |
ClinGen gnomAD |
|
|
CA396416321 rs1340956528 |
10 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA396416318 rs1340956528 |
10 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 11 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200428783 CA283210350 |
13 | G>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA283210354 rs905978611 |
13 | G>S | No |
ClinGen Ensembl |
|
|
CA8123349 rs761014774 |
18 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283210346 rs761014774 |
18 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462370879 CA396416214 |
19 | S>G | No |
ClinGen gnomAD |
|
|
CA283210326 rs1005054568 |
21 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs767923462 CA283210321 |
22 | L>F | No |
ClinGen gnomAD |
|
|
rs767923462 CA396416183 |
22 | L>I | No |
ClinGen gnomAD |
|
|
rs768012798 CA8123346 |
27 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396416108 rs1200502217 |
28 | Q>* | No |
ClinGen gnomAD |
|
|
CA396416088 rs1217066378 |
29 | P>H | No |
ClinGen gnomAD |
|
|
CA396416093 rs1300362774 |
29 | P>S | No |
ClinGen gnomAD |
|
|
rs1326258554 CA396416074 |
30 | V>A | No |
ClinGen gnomAD |
|
|
rs762204698 CA8123343 |
30 | V>L | No |
ClinGen ExAC |
|
|
CA8123341 rs539349506 |
32 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA283210261 rs1030094590 |
32 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8123340 rs762170244 |
33 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396416020 rs1374093541 |
34 | Y>N | No |
ClinGen gnomAD |
|
|
rs1467680609 CA396415990 |
35 | T>I | No |
ClinGen gnomAD |
|
|
rs149049423 CA8123339 |
35 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1412930113 CA396415972 |
37 | P>S | No |
ClinGen gnomAD |
|
|
CA8123337 rs769325455 |
38 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs780785366 CA396415953 |
39 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123334 rs145012164 |
39 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780785366 CA8123335 |
39 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396415935 rs777610323 |
40 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8123332 rs777610323 |
40 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8123333 rs746747602 |
40 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs547189498 | 41 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8123329 rs752645368 |
41 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123328 rs200981093 |
42 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396415897 rs1239042849 |
43 | L>F | No |
ClinGen gnomAD |
|
|
rs756211499 CA396415876 |
45 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756211499 CA8123327 |
45 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396415860 rs1393597087 |
47 | G>R | No |
ClinGen gnomAD |
|
|
rs1457599759 CA396415840 |
48 | A>V | No |
ClinGen gnomAD |
|
|
rs201209256 CA8123326 |
51 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396415752 rs1361324012 |
54 | M>T | No |
ClinGen gnomAD |
|
|
CA396415730 rs976384250 |
55 | P>L | No |
ClinGen gnomAD |
|
|
rs976384250 CA283210182 |
55 | P>R | No |
ClinGen gnomAD |
|
|
rs867883223 CA283210183 |
55 | P>S | No |
ClinGen TOPMed |
|
|
rs1349607624 CA396415722 |
56 | G>D | No |
ClinGen TOPMed |
|
|
rs1378499861 CA396415729 |
56 | G>S | No |
ClinGen gnomAD |
|
|
CA396415718 rs1419532600 |
57 | T>A | No |
ClinGen gnomAD |
|
|
CA396415703 rs1255377803 |
58 | Y>C | No |
ClinGen gnomAD |
|
|
CA8123323 rs762116484 |
59 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762116484 CA283210171 |
59 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396415679 rs1258014906 |
60 | P>L | No |
ClinGen gnomAD |
|
|
rs774650281 CA8123322 |
64 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764491847 CA8123321 |
64 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396415631 rs1320665142 |
65 | S>G | No |
ClinGen gnomAD |
|
|
CA283210131 rs1004055130 |
66 | S>N | No |
ClinGen gnomAD |
|
|
rs1357710678 CA396415584 |
68 | S>R | No |
ClinGen gnomAD |
|
|
CA396415569 rs1313888705 |
69 | T>I | No |
ClinGen gnomAD |
|
|
rs776016094 CA8123318 |
70 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368018878 CA396415523 |
73 | Q>* | No |
ClinGen gnomAD |
|
|
rs776277985 CA8123315 |
74 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1598273005 CA396415498 |
75 | Q>E | No |
ClinGen Ensembl |
|
|
CA396415490 rs1418244868 |
75 | Q>R | No |
ClinGen gnomAD |
|
|
rs1487068051 CA396415469 |
77 | R>P | No |
ClinGen gnomAD |
|
|
CA396415467 rs1487068051 |
77 | R>Q | No |
ClinGen gnomAD |
|
|
CA396415471 rs1192684935 |
77 | R>W | No |
ClinGen gnomAD |
|
|
rs770625516 CA8123314 |
79 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8123313 rs746669449 |
80 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8123311 rs202239509 |
81 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8123310 rs202239509 |
81 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777466466 CA8123312 |
81 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1243187512 CA396415412 |
82 | D>N | No |
ClinGen gnomAD |
|
|
rs778866453 CA8123309 |
83 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA396415376 rs1248948278 |
84 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 84 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149918129 CA396415366 |
85 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8123306 rs149918129 |
85 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396415351 rs1374340059 |
86 | V>G | No |
ClinGen gnomAD |
|
|
rs370389022 CA8123303 |
86 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396415341 rs763339034 CA396415340 |
87 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1390058968 CA396415343 |
87 | D>G | No |
ClinGen gnomAD |
|
|
CA8123301 rs753151494 |
88 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283210044 rs753151494 |
88 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396415294 rs1254473418 |
89 | H>R | No |
ClinGen gnomAD |
|
|
CA8123274 rs144507252 |
91 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA396415256 rs1308648060 |
93 | P>L | No |
ClinGen gnomAD |
|
|
rs147847477 CA8123273 |
93 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1378176788 CA396415249 |
94 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 95 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396415234 rs1444402712 |
96 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8123270 rs768551952 |
97 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA283209754 rs964424635 |
98 | Q>* | No |
ClinGen TOPMed |
|
|
rs1329534074 CA396415212 |
98 | Q>H | No |
ClinGen gnomAD |
|
|
rs749261378 CA8123269 |
99 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749261378 CA396415202 |
99 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396415164 rs1299689361 |
103 | G>A | No |
ClinGen TOPMed |
|
|
CA396415156 rs1399856858 |
104 | L>P | No |
ClinGen gnomAD |
|
|
CA283209751 rs895927796 |
105 | Q>R | No |
ClinGen gnomAD |
|
|
CA8123268 rs76898487 |
106 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1434981628 CA396415144 |
106 | D>N | No |
ClinGen gnomAD |
|
|
rs554053966 CA8123267 |
107 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8123266 rs747054444 |
110 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123265 rs777699818 COSM471967 |
110 | R>H | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 111 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396415095 rs1213241643 |
111 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574279521 CA8123262 |
115 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396415037 rs1353005421 |
117 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755283112 CA396414993 |
122 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755283112 CA8123261 |
122 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396414985 rs1244024705 |
123 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754369932 CA8123260 |
124 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396414959 rs1314516365 |
126 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA396414960 rs1314516365 |
126 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8123258 rs755590475 |
127 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750019739 CA8123257 |
128 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs547766230 CA283209697 |
129 | A>D | No |
ClinGen gnomAD |
|
|
COSM3691115 CA8123255 rs761580112 |
129 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs547766230 CA396414930 |
129 | A>V | No |
ClinGen gnomAD |
|
|
CA396414927 rs1267959518 |
130 | Q>* | No |
ClinGen TOPMed |
|
|
rs751262522 CA8123236 |
132 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs971304004 CA283209461 |
132 | W>R | No |
ClinGen TOPMed |
|
|
rs1216206590 CA396414844 |
135 | Y>C | No |
ClinGen TOPMed |
|
|
rs1314048809 CA396414822 |
138 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763783491 CA8123235 |
139 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8123234 rs762684170 |
141 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs142359415 CA8123233 |
142 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200552217 COSM1629957 CA8123232 |
143 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1012680301 CA283209437 |
143 | R>W | No |
ClinGen TOPMed |
|
|
CA396414757 rs1567447944 |
144 | D>G | No |
ClinGen Ensembl |
|
|
rs1273945484 CA396414762 |
144 | D>N | No |
ClinGen gnomAD |
|
|
CA396414749 rs1209716632 |
145 | A>P | No |
ClinGen TOPMed |
|
|
CA396414744 rs1372598527 |
145 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8123230 COSM558609 rs368802189 |
146 | L>P | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA396414736 rs1462454600 |
147 | R>C | No |
ClinGen gnomAD |
|
|
rs768027580 CA8123228 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8123229 rs768027580 |
147 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123226 rs375989977 |
151 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420488251 CA396414690 |
152 | Q>* | No |
ClinGen gnomAD |
|
|
rs531799009 CA8123224 |
153 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA283209380 rs148736668 |
153 | I>T | No |
ClinGen ESP |
|
| TCGA novel | 154 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396414655 rs1160599537 |
155 | L>F | No |
ClinGen gnomAD |
|
|
CA396414638 rs1255009731 |
156 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM972661 rs201555693 CA8123223 |
157 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201555693 CA283209368 |
157 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs564605320 CA8123222 COSM460488 |
157 | R>H | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs564605320 CA396414628 |
157 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8123221 rs781484778 |
158 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123219 rs368160537 |
158 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123220 rs368160537 |
158 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs919579657 CA283209348 |
159 | M>I | No |
ClinGen Ensembl |
|
|
CA396414596 rs1598269350 |
160 | C>Y | No |
ClinGen Ensembl |
|
|
CA8123217 rs144339907 |
163 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777419220 CA8123218 |
163 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA396414543 rs1567447690 |
164 | S>Y | No |
ClinGen Ensembl |
|
|
rs752268573 CA8123216 COSM1709311 |
167 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1303532869 CA396414486 |
168 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA396414462 rs1376818232 |
170 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs753813676 CA8123213 COSM1379054 |
171 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs555934050 CA8123188 |
176 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396414332 rs1598268634 |
176 | N>S | No |
ClinGen Ensembl |
|
|
CA8123187 rs775795150 |
177 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA8123186 rs775795150 |
177 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1355579856 CA396414303 |
178 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA396414252 rs1275643203 |
182 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8123183 rs139782026 |
185 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139782026 CA8123185 |
185 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139782026 CA8123184 |
185 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123181 rs201302210 |
186 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8123180 rs201302210 |
186 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396414190 rs1484590959 |
187 | V>I | No |
ClinGen gnomAD |
|
|
rs146393703 CA8123177 |
188 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123178 rs146393703 |
188 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396414161 rs1598268417 |
189 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 192 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396414120 rs1407291141 |
193 | L>P | No |
ClinGen TOPMed |
|
|
rs748950745 CA283209142 |
194 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs748950745 CA8123175 |
194 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8123173 rs141563048 |
197 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8123172 rs750368497 |
197 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs374497696 CA8123171 |
199 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374497696 CA396414064 |
199 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1047696472 CA283209132 |
201 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
TCGA novel CA658682938 rs255051 |
201 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA 1000Genomes ESP ExAC gnomAD |
|
CA283209109 rs255051 VAR_060230 |
201 | R>P | No |
ClinGen UniProt 1000Genomes ESP ExAC dbSNP gnomAD |
|
|
CA396414040 rs1331723561 |
202 | T>I | No |
ClinGen TOPMed |
|
|
rs1278640029 CA396414017 |
204 | Y>* | No |
ClinGen TOPMed |
|
|
rs1162779343 CA396414025 |
204 | Y>H | No |
ClinGen gnomAD |
|
|
CA8123167 rs370066264 |
205 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765330926 CA8123168 |
205 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA396414008 rs1476286665 |
205 | M>T | No |
ClinGen gnomAD |
|
|
CA283209093 rs374923512 |
209 | R>C | No |
ClinGen ESP gnomAD |
|
|
CA8123166 rs373145757 |
209 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123165 rs202183776 |
210 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1186601015 CA396413971 |
210 | Y>H | No |
ClinGen gnomAD |
|
|
CA396413960 rs1273079570 |
211 | L>V | No |
ClinGen gnomAD |
|
|
CA8123163 rs150079633 COSM1379053 |
212 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA283209083 rs150079633 |
212 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396413941 rs1274219623 |
213 | L>P | No |
ClinGen gnomAD |
|
|
rs1056361250 CA396413912 |
216 | T>I | No |
ClinGen gnomAD |
|
|
rs1056361250 CA283209073 |
216 | T>S | No |
ClinGen gnomAD |
|
|
rs748681048 CA8123160 |
217 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8123161 rs772509435 |
217 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 219 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8123157 rs748927361 |
220 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA396413880 rs768166328 |
220 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8123158 rs768166328 |
220 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA283209037 rs772615767 COSM3957743 |
221 | W>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs769506790 CA396413452 COSM3957743 |
221 | W>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs769506790 CA8123131 |
221 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs186958025 CA8123130 |
223 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8123127 rs764677038 |
226 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs746948522 CA283208493 |
227 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777696064 CA396413388 |
228 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs777696064 CA8123124 |
228 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs182589890 CA8123122 |
229 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396413372 rs780276903 |
230 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396413374 rs780276903 |
230 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123121 rs780276903 |
230 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123116 rs552543500 |
237 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396413304 rs1434765900 |
237 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396413300 rs1383677983 |
238 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs942775952 CA283208460 |
238 | G>V | No |
ClinGen Ensembl |
|
|
rs752021379 CA8123115 |
241 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1272477138 CA396413284 |
241 | D>Y | No |
ClinGen gnomAD |
|
|
CA396413268 rs1183367340 |
243 | G>D | No |
ClinGen gnomAD |
|
|
CA396413237 rs963010731 |
246 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA283208349 rs963010731 |
246 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs765970809 CA8123090 |
250 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326540802 CA396413209 |
250 | M>T | No |
ClinGen gnomAD |
|
|
rs760294074 CA396413196 |
252 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758977397 CA8123089 |
252 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758977397 CA396413194 |
252 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760294074 CA283208348 |
252 | R>S | No |
ClinGen gnomAD |
|
|
CA396413183 rs1406378345 |
254 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8123088 rs776157509 |
255 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598264380 CA396413179 |
255 | M>T | No |
ClinGen Ensembl |
|
|
CA8123087 rs530061182 |
256 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1452763390 CA396413172 |
256 | M>V | No |
ClinGen TOPMed |
|
|
rs976551789 CA283208331 |
257 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1248746992 CA396413141 |
260 | S>F | No |
ClinGen gnomAD |
|
|
rs1248746992 CA396413143 |
260 | S>Y | No |
ClinGen gnomAD |
|
|
CA396413137 rs1420998100 |
261 | H>R | No |
ClinGen TOPMed |
|
|
rs1034806253 CA283208309 |
261 | H>Y | No |
ClinGen gnomAD |
|
|
rs771969590 CA8123084 |
262 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA396413117 rs1387893777 |
264 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 265 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170229002 CA396413095 |
268 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs748116361 CA8123083 |
268 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8123081 rs201396720 |
269 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8123082 rs550446323 |
269 | R>W | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs986242989 CA283208231 |
273 | V>L | No |
ClinGen TOPMed |
|
|
CA396413057 rs1221645138 |
275 | Q>* | No |
ClinGen TOPMed |
|
|
CA8123078 rs371496343 |
276 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 277 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8123077 rs147996284 |
277 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354369674 CA396413038 |
278 | V>E | No |
ClinGen gnomAD |
|
|
CA8123076 rs778135734 |
280 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396413010 rs1390789344 |
282 | H>L | No |
ClinGen gnomAD |
|
|
rs1173104337 CA396413008 |
282 | H>Q | No |
ClinGen gnomAD |
|
|
CA396413003 rs1452721094 |
283 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA396413002 rs1452721094 |
283 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs868542914 CA283208201 |
284 | A>S | No |
ClinGen Ensembl |
|
|
CA8123072 rs753450669 |
286 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs527641282 CA8123070 |
286 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753450669 CA8123071 |
286 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1206106020 CA396412986 |
287 | G>C | No |
ClinGen gnomAD |
|
|
CA396412988 rs1206106020 |
287 | G>S | No |
ClinGen gnomAD |
|
|
rs760423409 CA8123069 |
289 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1038836885 CA283208164 |
291 | S>R | No |
ClinGen Ensembl |
|
|
CA396412954 rs774095703 |
292 | A>P | No |
ClinGen gnomAD |
|
|
CA283208163 rs774095703 |
292 | A>T | No |
ClinGen gnomAD |
|
|
CA396412949 rs376501465 |
293 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200429288 CA8123067 |
293 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376501465 CA8123068 |
293 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8123065 rs373693556 |
298 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396412908 rs1373003668 |
299 | I>N | No |
ClinGen gnomAD |
|
|
rs200694435 CA8123062 |
301 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372203515 CA8123045 |
304 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396412857 rs1429266635 |
305 | K>N | No |
ClinGen TOPMed |
|
|
CA8123042 rs145887676 |
307 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145887676 CA8123041 |
307 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372357723 CA283207569 |
308 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA396412841 rs1475986745 |
308 | G>V | No |
ClinGen gnomAD |
|
|
CA396412834 rs1598261570 |
309 | V>A | No |
ClinGen Ensembl |
|
|
rs140744195 CA8123039 |
309 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396412833 rs779298810 |
310 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8123037 rs779298810 |
310 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8123035 rs749830324 |
314 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 314 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396412798 rs1371930305 |
315 | S>Y | No |
ClinGen Ensembl |
|
|
CA8123034 rs780357249 |
316 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8123032 rs750023132 |
318 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8123033 rs201800946 |
318 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8123031 rs780818900 |
319 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs146119054 CA283207508 |
320 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146119054 CA8123030 |
320 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396412759 rs763983825 |
321 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA8123027 rs372211741 |
322 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368738582 CA283207475 |
322 | N>I | No |
ClinGen ESP TOPMed |
|
|
rs182720433 CA8123026 |
322 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA396412755 rs368738582 |
322 | N>T | No |
ClinGen ESP TOPMed |
|
|
CA396412742 rs1368679118 |
324 | S>* | No |
ClinGen gnomAD |
|
|
CA283207469 rs374262446 |
326 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1169354300 CA396412722 |
327 | V>G | No |
ClinGen gnomAD |
|
|
CA396412703 rs1421048804 |
331 | A>T | No |
ClinGen gnomAD |
|
|
CA396412698 rs1174270824 |
331 | A>V | No |
ClinGen TOPMed |
|
|
rs1235351787 CA396412599 |
334 | F>V | No |
ClinGen gnomAD |
|
|
rs540505554 COSM1379051 CA8122995 |
335 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8122994 rs777214198 |
336 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs573249608 CA8122993 |
336 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396412557 rs1308303814 |
338 | K>R | No |
ClinGen gnomAD |
|
|
rs1033727371 CA283206897 |
339 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA283206892 rs866617431 |
339 | A>V | No |
ClinGen Ensembl |
|
|
CA283206882 rs375949900 |
340 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA8122992 rs375949900 |
340 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA396412512 rs1433126524 |
343 | S>F | No |
ClinGen TOPMed |
|
|
CA396412505 rs1171296107 |
344 | K>R | No |
ClinGen gnomAD |
|
|
CA396412493 rs1378517016 |
345 | F>S | No |
ClinGen gnomAD |
|
|
CA8122991 rs777330949 |
346 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1003638678 CA283206872 |
346 | I>T | No |
ClinGen Ensembl |
|
|
rs142237629 CA8122990 |
347 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1438626580 CA396412460 |
349 | G>C | No |
ClinGen TOPMed |
|
|
rs374612240 CA8122989 |
349 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396412463 rs1438626580 |
349 | G>S | No |
ClinGen TOPMed |
|
|
rs754728021 CA8122988 |
353 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs754728021 CA8122987 |
353 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8122986 rs753778067 |
354 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA396412403 rs1555504690 |
355 | A>S | No |
ClinGen Ensembl |
|
|
CA396412401 rs1228965230 |
355 | A>V | No |
ClinGen TOPMed |
|
| rs1207698660 | 356 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396412393 rs1345641691 |
356 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA396412389 rs1260145863 |
356 | G>V | No |
ClinGen gnomAD |
|
|
CA283205879 rs1006367281 |
358 | F>L | No |
ClinGen Ensembl |
|
|
CA8122964 rs145720875 |
360 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA283205875 rs1034005827 |
361 | G>E | No |
ClinGen Ensembl |
|
|
rs1567440709 CA396412284 |
361 | G>R | No |
ClinGen Ensembl |
|
|
CA8122962 rs199952465 |
364 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201163956 CA8122960 |
365 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1411862888 CA396412235 |
368 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA396412232 rs1365482368 |
369 | P>A | No |
ClinGen TOPMed |
|
|
rs752877869 CA8122959 |
369 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372611838 CA396412226 |
370 | V>D | No |
ClinGen gnomAD |
|
|
CA283205827 rs956903082 |
372 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759825248 CA8122957 |
373 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1046025109 CA283205816 |
377 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA396412176 rs1567440531 |
378 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8122956 rs754291865 |
378 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8122955 rs766824465 |
379 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8122954 rs761104550 |
381 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA8122952 rs771486495 |
381 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs573954866 CA8122950 |
383 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8122951 rs375315698 |
383 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1003206502 CA396412134 CA283205775 |
384 | E>D | No |
ClinGen TOPMed |
|
|
rs112383450 CA283205782 |
384 | E>G | No |
ClinGen Ensembl |
|
|
CA8122949 rs199768673 |
386 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396412117 rs1440605472 |
387 | G>D | No |
ClinGen gnomAD |
|
|
rs779846889 CA8122947 |
388 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1325735325 CA396412106 |
389 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8122946 rs769539400 |
390 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA283205766 rs769539400 |
390 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181288789 CA8122945 |
390 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA396412096 rs1395792587 |
391 | G>E | No |
ClinGen gnomAD |
|
|
rs569731919 CA283205760 |
391 | G>R | No |
ClinGen 1000Genomes TOPMed |
|
|
CA283205758 rs936751524 |
392 | N>I | No |
ClinGen Ensembl |
|
|
CA396412092 rs936751524 |
392 | N>T | No |
ClinGen Ensembl |
|
|
CA8122942 rs144454541 |
395 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757133675 CA8122943 |
395 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598253195 CA396412072 |
396 | V>G | No |
ClinGen Ensembl |
|
|
rs766877867 CA8122939 |
399 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766877867 CA8122938 |
399 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8122937 rs756432860 |
400 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1598253123 CA396412047 |
400 | V>L | No |
ClinGen Ensembl |
|
|
rs768127528 CA8122935 |
402 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546959816 CA8122916 |
403 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 403 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396412003 rs1310943604 |
405 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs976719141 CA283205589 |
406 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs763600957 CA8122915 |
407 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs146351596 CA8122914 |
410 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396411952 rs1286628963 |
411 | S>I | No |
ClinGen gnomAD |
|
|
rs1411931310 CA396411947 |
412 | P>H | No |
ClinGen gnomAD |
|
|
CA8122913 rs774970419 |
412 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs528870660 CA8122912 |
413 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1351110750 CA396411941 |
413 | L>S | No |
ClinGen gnomAD |
|
|
rs1445979325 CA396411938 |
414 | E>K | No |
ClinGen gnomAD |
|
|
CA396411916 rs759082940 |
416 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8122910 rs776534967 |
418 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs964100978 CA283205525 |
418 | P>L | No |
ClinGen TOPMed |
|
|
rs746971748 CA8122908 |
419 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8122907 rs773213621 |
420 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1160845280 CA396411895 |
420 | E>K | No |
ClinGen gnomAD |
|
|
CA283205521 rs756901785 |
424 | S>G | No |
ClinGen Ensembl |
|
|
rs1483970874 CA396411614 |
425 | S>F | No |
ClinGen gnomAD |
|
|
rs183628292 CA8122906 |
425 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs779993387 CA8122904 |
426 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs756398108 CA8122903 |
427 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA8122901 rs781644300 |
429 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396411552 rs1598252011 |
430 | L>I | No |
ClinGen Ensembl |
|
|
rs1381489505 CA396411531 |
431 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396411540 rs1226646459 |
431 | S>P | No |
ClinGen gnomAD |
|
|
CA283205483 rs1015495896 |
432 | R>C | No |
ClinGen gnomAD |
|
|
rs200614898 CA8122900 |
432 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200614898 CA396411521 |
432 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8122899 rs752075576 |
433 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8122898 rs778313366 |
434 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8122897 rs758904218 |
434 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283205468 rs528966964 |
437 | Q>L | No |
ClinGen Ensembl |
|
|
rs757915998 CA8122895 |
438 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8122893 rs753390615 |
440 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs766197649 CA8122892 |
442 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866783628 CA283205448 |
444 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 444 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs566224645 CA283205445 |
447 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs566224645 CA8122891 |
447 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1265060030 CA396411279 |
449 | P>A | No |
ClinGen gnomAD |
|
|
rs1287038826 CA396411250 |
450 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA396411255 rs1382895594 |
450 | I>T | No |
ClinGen TOPMed |
|
|
CA8122890 rs772202768 |
451 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA8122889 rs772202768 |
451 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761810107 CA8122888 |
452 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1567439370 CA396411204 |
453 | T>I | No |
ClinGen Ensembl |
|
|
CA396411191 rs1313552022 |
454 | A>V | No |
ClinGen gnomAD |
|
|
rs775662244 CA8122886 |
455 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs148784169 CA8122884 |
458 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA8122883 rs781214458 |
460 | W>C | No |
ClinGen ExAC |
|
|
rs1435518589 CA396411133 |
460 | W>R | No |
ClinGen gnomAD |
|
|
rs1291388640 CA396411102 |
463 | S>* | No |
ClinGen gnomAD |
|
|
CA396411104 rs143876744 |
463 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8122882 rs143876744 |
463 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747442513 CA8122881 |
465 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747442513 CA396411085 |
465 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs758957088 CA8122879 |
466 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8122880 rs778084333 |
466 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598251360 CA396411069 |
467 | P>R | No |
ClinGen Ensembl |
|
|
CA8122876 rs1133090 VAR_033894 |
468 | H>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8122877 rs1133090 |
468 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1023404475 | 468 | H>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8122878 rs1133090 |
468 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766003939 CA8122874 |
469 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8122875 rs531284451 |
469 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396410976 rs1598251230 |
478 | T>S | No |
ClinGen Ensembl |
|
|
rs267604603 COSM36719 CA283205381 |
480 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA8122873 rs760397309 |
484 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA283205377 rs866029507 |
485 | W>* | No |
ClinGen TOPMed |
|
|
CA396410910 rs866029507 |
485 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 487 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9H4A9
4 regional properties for Q9H4A9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 66 - 87 | IPR001611-1 |
| repeat | Leucine-rich repeat | 88 - 109 | IPR001611-2 |
| repeat | Leucine-rich repeat | 110 - 131 | IPR001611-3 |
| repeat | Leucine-rich repeat | 132 - 153 | IPR001611-4 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.13.19 | Dipeptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchored component of membrane | The component of a membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| dipeptidase activity | Catalysis of the hydrolysis of a dipeptide. |
| metal ion binding | Binding to a metal ion. |
| metallodipeptidase activity | Catalysis of the hydrolysis of a dipeptide by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| leukotriene D4 catabolic process | The chemical reactions and pathways resulting in the breakdown of leukotriene D4. |
| leukotriene metabolic process | The chemical reactions and pathways involving leukotriene, a pharmacologically active substance derived from a polyunsaturated fatty acid, such as arachidonic acid. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQPSGLEGPG | TFGRWPLLSL | LLLLLLLQPV | TCAYTTPGPP | RALTTLGAPR | AHTMPGTYAP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| STTLSSPSTQ | GLQEQARALM | RDFPLVDGHN | DLPLVLRQVY | QKGLQDVNLR | NFSYGQTSLD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLRDGLVGAQ | FWSAYVPCQT | QDRDALRLTL | EQIDLIRRMC | ASYSELELVT | SAKALNDTQK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LACLIGVEGG | HSLDNSLSIL | RTFYMLGVRY | LTLTHTCNTP | WAESSAKGVH | SFYNNISGLT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DFGEKVVAEM | NRLGMMVDLS | HVSDAVARRA | LEVSQAPVIF | SHSAARGVCN | SARNVPDDIL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QLLKKNGGVV | MVSLSMGVIQ | CNPSANVSTV | ADHFDHIKAV | IGSKFIGIGG | DYDGAGKFPQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLEDVSTYPV | LIEELLSRGW | SEEELQGVLR | GNLLRVFRQV | EKVQEENKWQ | SPLEDKFPDE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QLSSSCHSDL | SRLRQRQSLT | SGQELTEIPI | HWTAKLPAKW | SVSESSPHMA | PVLAVVATFP |
| VLILWL |