O43506
PR
Gene name |
ADAM20 |
Protein name |
Disintegrin and metalloproteinase domain-containing protein 20 |
Names |
ADAM 20 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8748 |
EC number |
|
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 O43506
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O43506-F1 | Predicted | AlphaFoldDB |
643 variants for O43506
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs760949231 CA7249122 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390225572 rs1370456181 |
3 | V>M | No |
ClinGen gnomAD |
|
|
rs767624174 CA7249120 |
6 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767624174 CA390225531 |
6 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7249121 rs373576636 |
6 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398256889 CA390225518 |
8 | V>M | No |
ClinGen gnomAD |
|
|
rs1337784624 CA390225498 |
9 | H>P | No |
ClinGen gnomAD |
|
|
rs976861065 CA263064960 |
11 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA390225459 rs1595016330 |
12 | V>G | No |
ClinGen Ensembl |
|
|
rs1454152964 CA390225443 |
14 | L>V | No |
ClinGen gnomAD |
|
|
CA390225424 rs965014835 |
16 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390225410 rs1178907544 |
17 | L>P | No |
ClinGen TOPMed |
|
|
CA7249118 rs774282355 |
17 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7249117 rs768457876 |
18 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61739470 CA390225397 |
18 | W>L | No |
ClinGen gnomAD |
|
|
rs61739470 CA263064928 |
18 | W>S | No |
ClinGen gnomAD |
|
|
rs1059166 CA263064889 VAR_047311 |
19 | F>L | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 19 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749126085 CA7249116 |
20 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs985353996 CA263064875 |
21 | M>V | No |
ClinGen Ensembl |
|
| rs1301541036 | 23 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769500504 CA7249114 |
25 | I>V | No |
ClinGen ExAC |
|
|
rs745519054 CA7249112 |
26 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354239710 CA390225278 |
27 | G>C | No |
ClinGen gnomAD |
|
|
rs199645906 CA7249111 |
27 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7249110 rs756719590 |
28 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390225249 rs142051635 |
29 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7249109 rs142051635 |
29 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7249108 rs779513861 |
30 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA390225225 rs1174655284 |
31 | A>D | No |
ClinGen gnomAD |
|
|
CA390225230 rs1361391168 |
31 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754295950 CA7249106 |
32 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766849076 CA7249104 |
35 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7249102 rs750605319 |
35 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7249103 rs756351593 |
35 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024394504 CA263064774 |
36 | Y>C | No |
ClinGen TOPMed |
|
|
rs777568501 CA263064775 |
36 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA390225139 rs1182875335 |
38 | T>A | No |
ClinGen TOPMed |
|
|
CA390225125 rs1595016180 |
39 | S>Y | No |
ClinGen Ensembl |
|
|
CA390225112 rs1210131978 |
40 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7249101 rs767502311 |
40 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7249099 rs774388289 |
41 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs201128252 CA263064750 |
42 | V>A | No |
ClinGen 1000Genomes |
|
|
CA7249098 rs764056762 |
43 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs531288041 CA7249097 |
45 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1228957336 CA390225042 |
47 | K>Q | No |
ClinGen gnomAD |
|
|
rs1174388242 CA390225010 |
49 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390225006 rs1183988104 |
49 | I>T | No |
ClinGen gnomAD |
|
|
rs775320440 CA7249096 |
50 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA390224978 rs1356700811 |
51 | R>S | No |
ClinGen TOPMed |
|
|
CA390224968 rs1311569443 |
52 | G>D | No |
ClinGen gnomAD |
|
|
CA7249095 rs769518959 |
54 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA390224942 rs1361765153 |
55 | A>T | No |
ClinGen gnomAD |
|
|
rs745510452 CA7249094 |
56 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs745510452 CA390224932 |
56 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA263064652 rs891871785 |
57 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs563764959 CA7249093 |
59 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770370530 CA7249092 |
60 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7249091 rs746577934 |
62 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1369358329 CA390224854 |
63 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 63 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7249090 rs777388468 |
64 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263064638 rs905871218 |
64 | S>R | No |
ClinGen TOPMed |
|
|
CA7249088 rs138842334 |
66 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755610724 CA7249089 |
66 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs947639771 CA263064614 |
67 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs374396103 CA263064608 |
68 | G>R | No |
ClinGen ESP TOPMed |
|
|
rs1361615770 CA390224794 |
68 | G>V | No |
ClinGen Ensembl |
|
|
CA390224785 rs1485458784 |
69 | G>E | No |
ClinGen gnomAD |
|
|
CA7249087 rs370689994 |
70 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7249086 rs372885164 |
70 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263064569 rs752625355 |
71 | R>K | No |
ClinGen TOPMed |
|
|
rs757386320 CA7249083 |
72 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767826634 CA7249084 |
72 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390224753 rs767826634 |
72 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7249081 rs764143143 |
73 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390224717 rs1293733706 |
74 | V>A | No |
ClinGen gnomAD |
|
|
rs1384754410 CA390224724 |
74 | V>I | No |
ClinGen gnomAD |
|
|
CA390224688 rs1566656028 |
76 | M>I | No |
ClinGen Ensembl |
|
|
rs1459081349 CA390224700 |
76 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390224669 rs1477813909 |
78 | V>I | No |
ClinGen TOPMed |
|
|
CA263064522 rs923645029 |
79 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390224593 rs1163497276 |
84 | A>P | No |
ClinGen gnomAD |
|
|
CA390224583 rs752562055 |
85 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs752562055 CA7249079 |
85 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA390224575 rs1191466097 |
85 | A>V | No |
ClinGen gnomAD |
|
|
CA390224570 rs1427676149 |
86 | H>Y | No |
ClinGen gnomAD |
|
|
rs1192732348 CA390224557 |
87 | L>F | No |
ClinGen gnomAD |
|
|
rs764972924 CA7249078 |
88 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390224504 rs1450513466 |
91 | T>I | No |
ClinGen TOPMed |
|
|
CA7249076 rs187181836 |
93 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390224460 rs1326383000 |
95 | Q>K | No |
ClinGen gnomAD |
|
|
CA7249074 rs760242363 |
95 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA390224435 rs1369249828 |
96 | H>L | No |
ClinGen TOPMed |
|
|
rs1369249828 CA390224437 |
96 | H>R | No |
ClinGen TOPMed |
|
|
CA390224424 rs1595015930 |
97 | A>D | No |
ClinGen Ensembl |
|
|
CA7249073 rs772919007 |
97 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771652900 CA7249072 |
99 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780671362 CA7249070 |
102 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA263064443 rs770174303 |
105 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461381836 CA390224318 |
105 | I>M | No |
ClinGen gnomAD |
|
|
CA7249069 rs770174303 |
105 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378139566 CA390224295 |
107 | D>G | No |
ClinGen gnomAD |
|
|
CA390224294 rs1378139566 |
107 | D>V | No |
ClinGen gnomAD |
|
|
CA263064419 rs867913616 |
107 | D>Y | No |
ClinGen Ensembl |
|
|
rs746279398 CA7249068 |
109 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA390224235 rs1595015866 |
111 | Y>C | No |
ClinGen Ensembl |
|
|
rs374862551 CA7249065 |
112 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7249066 rs374862551 |
112 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA263064374 rs952658132 |
114 | Y>* | No |
ClinGen Ensembl |
|
|
rs758432789 CA7249063 |
114 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758432789 CA390224193 |
114 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263064394 rs140811379 |
114 | Y>H | No |
ClinGen ESP TOPMed |
|
|
CA7249062 rs752652118 |
115 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs117452523 CA263064368 |
116 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390224147 rs1235872920 |
118 | V>F | No |
ClinGen gnomAD |
|
|
rs760087634 CA7249059 |
119 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302206855 CA390224127 |
120 | E>K | No |
ClinGen gnomAD |
|
|
rs575058707 CA7249057 |
124 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7249058 rs575058707 |
124 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA7249055 rs771743089 |
125 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1451148006 CA390224032 |
127 | T>A | No |
ClinGen TOPMed |
|
|
CA390224026 rs1402804132 |
127 | T>N | No |
ClinGen gnomAD |
|
|
rs773699050 CA7249053 |
130 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159050410 CA390223975 |
131 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1188323771 CA390223981 |
131 | G>R | No |
ClinGen TOPMed |
|
|
CA390223953 rs1369566159 |
133 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7249048 rs774811010 |
135 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA7249049 rs556710137 |
135 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1437379126 CA390223898 |
137 | Q>R | No |
ClinGen gnomAD |
|
|
rs1164384520 CA390223853 |
140 | D>G | No |
ClinGen TOPMed |
|
|
CA7249046 rs777922288 |
140 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758597254 CA7249045 |
141 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390223838 rs1368110801 |
141 | L>R | No |
ClinGen TOPMed |
|
|
CA390223834 rs1425358284 |
142 | V>L | No |
ClinGen gnomAD |
|
|
CA390223792 rs1280007356 |
144 | E>D | No |
ClinGen gnomAD |
|
|
CA7249043 rs370410951 |
148 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755002454 CA7249042 |
150 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs753662254 CA7249041 |
152 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs1340591219 CA390223675 |
154 | F>C | No |
ClinGen gnomAD |
|
|
rs1336069103 CA390223669 |
155 | E>K | No |
ClinGen gnomAD |
|
|
rs1435443176 CA390223638 |
157 | L>V | No |
ClinGen TOPMed |
|
|
rs377009908 CA263064210 |
158 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA7249039 rs755936744 |
158 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA919445651 rs1566655801 |
159 | Y>* | No |
ClinGen Ensembl |
|
|
CA7249037 rs373019898 |
159 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773967161 CA7249035 |
163 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA263064186 rs893415006 |
164 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs763452040 CA7249034 |
165 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1330071325 CA390223535 |
165 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA263064177 rs941647967 |
166 | T>A | No |
ClinGen TOPMed |
|
|
CA263064176 rs1053374509 |
166 | T>I | No |
ClinGen TOPMed |
|
|
rs760091909 CA7249032 |
168 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390223471 rs1472142253 |
169 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776962252 CA7249031 |
170 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs148902005 CA7249030 |
171 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747423661 CA7249029 |
172 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773536263 CA7249028 |
173 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 177 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980720425 CA263064111 |
177 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs980720425 CA390223365 |
177 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390223352 rs1230928205 |
178 | E>G | No |
ClinGen gnomAD |
|
|
rs902020859 CA263064105 |
178 | E>K | No |
ClinGen Ensembl |
|
|
CA390223336 rs1415984716 |
179 | K>R | No |
ClinGen TOPMed |
|
|
rs1566655745 CA390223319 |
180 | I>T | No |
ClinGen Ensembl |
|
|
CA263064089 rs201069820 |
183 | Q>* | No |
ClinGen Ensembl |
|
|
rs1040744730 CA263064087 |
184 | M>I | No |
ClinGen TOPMed |
|
|
rs748358453 CA7249025 |
185 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs779066325 CA7249024 |
185 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7249022 rs749282323 |
186 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7249023 rs754948570 |
186 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA263064063 rs367614369 |
190 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145480670 CA7249019 |
191 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390223176 rs145480670 |
191 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390223154 rs1167118000 |
192 | F>C | No |
ClinGen gnomAD |
|
|
CA390223140 rs1266491712 |
193 | T>I | No |
ClinGen TOPMed |
|
|
CA390223136 rs1417768101 |
194 | L>V | No |
ClinGen gnomAD |
|
|
CA390223105 rs1347502867 |
196 | Q>R | No |
ClinGen TOPMed |
|
|
rs756980185 CA7249017 |
198 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs756980185 CA7249018 |
198 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 200 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA263064046 rs538562888 |
202 | W>* | No |
ClinGen gnomAD |
|
|
rs538562888 CA390223022 |
202 | W>C | No |
ClinGen gnomAD |
|
|
CA7249015 rs763688691 |
202 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7249014 rs565846737 |
203 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1211266637 CA390223003 |
204 | T>A | No |
ClinGen gnomAD |
|
|
CA7249013 rs144157291 |
204 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761166677 CA7249011 |
205 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA390222992 rs1253309479 |
205 | H>Y | No |
ClinGen TOPMed |
|
|
CA7249010 rs773624640 |
206 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370104734 CA390222957 |
207 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370104734 CA7249008 |
207 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7249009 rs199933064 |
207 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7249006 rs768806385 |
208 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7249005 rs142064840 |
209 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1566655646 CA390222913 |
211 | L>V | No |
ClinGen Ensembl |
|
|
rs780272964 CA7249004 |
212 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769906418 CA7249003 |
213 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390222877 rs1167643830 |
214 | V>A | No |
ClinGen gnomAD |
|
|
rs535315660 CA7249002 |
214 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147580598 CA7249001 |
215 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191406714 CA390222863 |
216 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757075804 CA7249000 |
217 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238207722 CA390222828 |
218 | I>F | No |
ClinGen gnomAD |
|
|
CA390222811 rs1333048668 |
219 | R>T | No |
ClinGen TOPMed |
|
|
rs777338480 CA7248998 |
220 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs758037431 CA7248997 |
221 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA263063876 rs201618513 |
222 | F>L | No |
ClinGen Ensembl |
|
|
rs752215671 CA7248996 |
223 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs752215671 CA390222755 |
223 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7248995 rs764714944 |
224 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1438917317 CA390222701 |
227 | A>G | No |
ClinGen gnomAD |
|
|
CA390222706 rs1305870082 |
227 | A>T | No |
ClinGen gnomAD |
|
|
CA7248994 rs567945895 |
228 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs928506538 CA263063863 |
229 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7248993 rs750864131 |
229 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248992 rs767901967 |
230 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248991 rs60731609 |
231 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1397328324 CA390222624 |
233 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 234 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390222572 rs531350369 |
237 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531350369 CA7248988 |
237 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773651514 CA7248985 |
239 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1051621087 CA263063819 |
240 | I>M | No |
ClinGen TOPMed |
|
|
CA7248984 rs775722485 |
241 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs769924908 CA7248983 |
242 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs745829930 CA7248982 |
244 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7248981 rs772573041 |
245 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777620333 CA7248978 |
246 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376228756 CA7248979 |
246 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs770877888 CA7248980 |
246 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1225539715 CA390222422 |
248 | L>F | No |
ClinGen gnomAD |
|
|
rs112672973 CA263063736 |
249 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 249 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371335369 CA390222405 |
250 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs957400272 CA263063731 |
251 | D>G | No |
ClinGen Ensembl |
|
|
rs1377802110 CA390222338 |
255 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1377802110 CA390222340 |
255 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7248974 rs754447445 |
256 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7248973 rs139913990 |
259 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374245271 CA263063722 |
260 | W>C | No |
ClinGen ESP gnomAD |
|
|
rs142643502 CA7248972 |
260 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762354361 CA7248971 |
261 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387537156 CA390222218 |
265 | P>A | No |
ClinGen TOPMed |
|
|
CA7248970 rs751923103 |
265 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs527236663 CA7248968 |
266 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 268 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255339803 CA390222149 |
270 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA390222128 rs1209873161 |
272 | L>Q | No |
ClinGen gnomAD |
|
|
rs770014559 CA7248966 |
273 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs770014559 CA390222114 |
273 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770014559 CA7248967 |
273 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1261504169 CA390222099 |
274 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390222090 rs1218277522 |
275 | V>I | No |
ClinGen gnomAD |
|
|
CA390222073 rs1315378372 |
276 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357900290 CA390222032 |
279 | F>I | No |
ClinGen gnomAD |
|
|
rs770840404 CA390222009 |
281 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248963 rs770840404 |
281 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573877636 CA263063680 |
283 | K>N | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390221976 rs1414513594 |
283 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs369510857 CA263063673 |
284 | N>H | No |
ClinGen ESP |
|
| TCGA novel | 284 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772897593 CA7248961 |
285 | Y>F | No |
ClinGen ExAC |
|
|
rs980453243 CA390221940 |
286 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA263063659 rs980453243 |
286 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs771834426 CA7248960 |
286 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1228296276 CA390221927 |
287 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs202015077 CA7248959 |
287 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778491103 CA7248958 |
290 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754605627 CA7248957 |
290 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7248956 rs748840783 |
291 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs146683648 CA7248955 |
292 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757713844 CA7248954 |
293 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7248953 rs143287090 |
294 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390221852 rs1292539586 |
295 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7248951 rs577456558 |
296 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA263063582 rs889571051 |
296 | A>S | No |
ClinGen Ensembl |
|
|
CA390221819 rs1260417207 |
297 | H>Q | No |
ClinGen gnomAD |
|
|
rs141928461 CA263063565 |
297 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA390221802 rs1156902038 |
299 | F>L | No |
ClinGen gnomAD |
|
|
rs753081837 CA7248950 |
301 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765607089 CA7248949 |
302 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs765607089 CA390221753 |
302 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1233156645 CA390221734 |
303 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7248946 rs766414340 |
304 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA390221707 rs1392559996 |
305 | G>A | No |
ClinGen TOPMed |
|
|
CA7248945 rs760542631 |
307 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA7248944 rs773151188 |
308 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138878809 CA7248943 |
309 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1442427999 CA390221657 |
309 | G>D | No |
ClinGen gnomAD |
|
|
CA7248942 rs138878809 |
309 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7248939 rs146102115 |
310 | V>I | No |
ClinGen ESP TOPMed |
|
|
rs768351469 CA7248938 |
311 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 311 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748877646 CA7248937 |
312 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA390221581 rs1374732587 |
315 | G>V | No |
ClinGen gnomAD |
|
|
rs1315463201 CA390221544 |
318 | Q>* | No |
ClinGen TOPMed |
|
|
rs755604203 CA7248935 |
319 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA263063460 rs919615705 |
320 | P>L | No |
ClinGen Ensembl |
|
|
rs558970714 CA7248934 |
327 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7248933 rs778386095 |
330 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7248929 rs755255577 |
335 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7248930 rs369142512 |
335 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA263063396 rs968823877 |
337 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754033245 CA7248928 |
338 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7248927 rs766390694 |
339 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs928441873 CA263063364 |
341 | G>D | No |
ClinGen Ensembl |
|
|
CA390221252 rs1268496729 |
341 | G>S | No |
ClinGen TOPMed |
|
|
CA263063354 rs773132300 |
343 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248925 rs773132300 |
343 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398534588 CA390221192 |
345 | G>V | No |
ClinGen gnomAD |
|
|
CA390221153 rs1395403496 |
348 | L>S | No |
ClinGen gnomAD |
|
|
rs1186926862 CA390221141 |
349 | G>D | No |
ClinGen TOPMed |
|
|
rs774194271 CA7248922 |
349 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs762619537 CA7248920 |
350 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs371285304 CA7248921 |
350 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775171224 CA7248919 |
352 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1030224752 CA263063230 |
353 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7248918 rs769301571 |
353 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA263063210 rs111784860 |
354 | T>A | No |
ClinGen Ensembl |
|
|
CA7248916 rs573164838 |
355 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7248915 rs149582876 |
357 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390221027 rs1213478136 |
357 | C>Y | No |
ClinGen gnomAD |
|
|
rs748598801 CA7248914 |
358 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7248911 rs754037598 |
360 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1006415079 CA263063129 |
362 | Q>R | No |
ClinGen TOPMed |
|
|
CA390220940 rs1390708048 |
363 | W>C | No |
ClinGen gnomAD |
|
|
CA263063127 rs111543472 |
364 | C>R | No |
ClinGen Ensembl |
|
|
CA390220914 rs1314421370 |
365 | I>M | No |
ClinGen gnomAD |
|
|
CA390220902 rs1432691464 |
366 | M>I | No |
ClinGen gnomAD |
|
|
CA7248907 rs767576326 |
367 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248906 rs761739177 |
369 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761739177 CA390220862 |
369 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 370 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 371 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA263063093 rs904925966 |
372 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs978064077 CA390220825 |
372 | V>L | No |
ClinGen TOPMed |
|
|
rs978064077 CA263063100 |
372 | V>M | No |
ClinGen TOPMed |
|
|
CA263063087 rs113354684 |
373 | T>P | No |
ClinGen Ensembl |
|
|
CA390220797 rs1365563460 |
374 | T>I | No |
ClinGen gnomAD |
|
|
rs1300223024 CA390220792 |
375 | K>E | No |
ClinGen gnomAD |
|
|
rs45622834 CA7248904 |
376 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7248905 rs139798952 |
376 | F>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1418941790 CA390220752 |
377 | S>R | No |
ClinGen gnomAD |
|
|
rs1258848382 CA390220686 |
382 | A>P | No |
ClinGen gnomAD |
|
|
rs1257613695 CA390220677 |
382 | A>V | No |
ClinGen TOPMed |
|
|
rs143888877 CA390220646 |
384 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1255439456 CA390220651 |
384 | Y>C | No |
ClinGen TOPMed |
|
|
CA7248902 rs775126973 |
384 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390220633 rs1352435072 |
385 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390220630 rs1352435072 |
385 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs759107358 CA7248900 |
385 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA390220603 rs1237721683 |
387 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7248898 rs770508103 |
388 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs113521334 CA263062955 |
390 | S>N | No |
ClinGen ESP gnomAD |
|
|
rs917509056 CA263062952 |
393 | L>S | No |
ClinGen TOPMed |
|
|
CA390220498 rs1318753380 |
395 | I>V | No |
ClinGen gnomAD |
|
|
CA7248895 rs769252835 |
396 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA263062942 rs76176529 |
396 | Q>H | No |
ClinGen Ensembl |
|
|
rs749707809 CA7248894 |
397 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248892 rs368537670 |
398 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7248891 rs750539188 |
399 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs113741808 CA263062913 |
400 | Y>C | No |
ClinGen Ensembl |
|
|
CA7248888 rs751610956 |
403 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390220394 rs1194351308 |
403 | N>S | No |
ClinGen gnomAD |
|
|
rs764071114 CA7248887 |
404 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259302261 CA390220174 |
408 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 409 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334964086 CA390220160 |
410 | C>F | No |
ClinGen gnomAD |
|
|
rs527303493 CA7248886 |
410 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7248884 rs141923848 |
415 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754969914 CA263062874 |
416 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113006830 CA263062869 |
417 | E>G | No |
ClinGen Ensembl |
|
|
CA263062871 rs969232008 |
417 | E>K | No |
ClinGen TOPMed |
|
|
CA7248882 rs185813974 |
421 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766018043 CA7248881 |
421 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547855276 CA7248880 |
423 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7248878 rs530466368 |
424 | G>V | No |
ClinGen 1000Genomes |
|
|
CA390220065 rs1395243981 |
425 | T>A | No |
ClinGen gnomAD |
|
|
rs1167225839 CA390220061 |
425 | T>N | No |
ClinGen gnomAD |
|
|
CA390220054 rs1479765871 |
426 | I>M | No |
ClinGen TOPMed |
|
|
CA7248876 rs769342676 |
427 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7248877 rs147557544 |
427 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 428 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390220027 rs1168838891 |
431 | K>E | No |
ClinGen gnomAD |
|
|
rs1172257323 CA390220019 |
432 | D>H | No |
ClinGen TOPMed |
|
|
rs939926809 CA263062824 |
433 | P>T | No |
ClinGen Ensembl |
|
|
rs1566655029 CA390219994 |
435 | C>F | No |
ClinGen Ensembl |
|
|
CA7248875 rs749751906 |
440 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7248874 rs775924012 |
441 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390219957 rs1595014588 |
441 | L>V | No |
ClinGen Ensembl |
|
|
CA390219953 rs769991681 |
442 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs769991681 CA7248873 |
442 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7248872 rs746138082 |
443 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA390219939 rs1308097379 |
444 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 444 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216108373 CA390219925 |
446 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1566654996 CA390219930 |
446 | A>T | No |
ClinGen Ensembl |
|
|
rs113659522 CA7248870 |
447 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1269396055 CA390219922 |
447 | C>Y | No |
ClinGen gnomAD |
|
|
rs757450820 CA7248869 |
449 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs868466434 CA263062757 |
449 | F>V | No |
ClinGen Ensembl |
|
|
rs1367970149 CA390219890 |
450 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 451 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7248868 rs747151954 |
451 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA390219877 rs1372004571 |
451 | I>V | No |
ClinGen gnomAD |
|
|
CA7248867 rs777827701 |
452 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248866 rs758362163 |
452 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1566654968 CA390219847 |
453 | C>S | No |
ClinGen Ensembl |
|
|
rs765102109 CA7248864 |
455 | D>E | No |
ClinGen ExAC |
|
|
rs752519900 CA7248865 |
455 | D>N | No |
ClinGen ExAC |
|
|
rs754687897 CA7248863 |
458 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248862 rs376505523 |
461 | S>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs760388763 CA7248860 |
462 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs772921418 CA7248859 |
463 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766866681 CA7248858 |
465 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 467 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA263062649 rs904956601 |
467 | Q>K | No |
ClinGen TOPMed |
|
|
CA7248856 CA390219652 rs775824254 |
468 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763526809 CA7248857 |
468 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA263062617 rs770307642 |
469 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs770307642 CA7248855 |
469 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1468268666 CA390219634 |
470 | G>D | No |
ClinGen TOPMed |
|
|
CA7248854 rs746283662 |
471 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1273562476 CA390219600 |
472 | C>W | No |
ClinGen gnomAD |
|
|
CA263062606 rs1045682688 |
474 | L>P | No |
ClinGen gnomAD |
|
|
CA7248853 rs532708658 |
475 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 476 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7248851 rs747170225 |
477 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA263062587 rs112177092 |
478 | C>R | No |
ClinGen Ensembl |
|
|
rs1367058892 CA390219521 |
478 | C>Y | No |
ClinGen gnomAD |
|
|
CA263062583 rs915764798 |
479 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs61744296 CA263062578 |
481 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7248849 rs758361875 |
484 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs748147482 CA7248848 |
487 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1482010757 CA390219405 |
487 | D>V | No |
ClinGen gnomAD |
|
|
rs936126608 CA263062560 |
488 | D>G | No |
ClinGen Ensembl |
|
|
CA263062552 rs747412033 |
489 | V>M | No |
ClinGen gnomAD |
|
|
rs112596178 CA263062515 |
491 | V>A | No |
ClinGen Ensembl |
|
|
CA7248846 rs754919285 |
491 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248843 rs755829915 |
493 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs370249536 CA7248844 |
493 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7248841 rs765924619 |
494 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761273860 CA7248840 |
497 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1282712971 CA390219241 |
499 | V>A | No |
ClinGen gnomAD |
|
|
rs202016898 CA263062463 |
500 | N>D | No |
ClinGen Ensembl |
|
|
CA263062461 rs977489038 |
500 | N>S | No |
ClinGen Ensembl |
|
|
CA7248838 rs765724575 |
502 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1311860598 CA390219207 |
502 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7248839 rs751063035 |
502 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA7248836 rs45554935 |
504 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760034193 CA7248837 |
504 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA390219150 rs1288347680 |
506 | K>N | No |
ClinGen gnomAD |
|
|
rs188347579 CA7248835 |
507 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7248834 rs188347579 |
507 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573231651 CA7248832 |
508 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748224006 CA7248831 |
508 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7248830 rs58669540 |
510 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7248829 rs768540777 |
511 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs868150611 CA263062366 |
511 | H>Y | No |
ClinGen Ensembl |
|
|
rs749169254 CA7248828 |
512 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7248827 rs780004754 |
513 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1212109496 CA390219057 |
514 | Q>* | No |
ClinGen TOPMed |
|
|
CA7248826 rs755920444 |
514 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193026753 CA390219046 |
515 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 517 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750215611 CA7248825 |
520 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 520 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 520 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390218971 rs780761874 |
521 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA7248824 rs780761874 |
521 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7248823 rs369562503 |
522 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390218958 rs369562503 |
522 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390218949 rs898281374 |
523 | A>S | No |
ClinGen gnomAD |
|
|
CA263062303 rs898281374 |
523 | A>T | No |
ClinGen gnomAD |
|
|
rs1183079364 CA390218938 |
524 | R>T | No |
ClinGen TOPMed |
|
|
rs751100421 CA7248822 |
525 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs150024122 CA7248820 |
526 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150024122 CA7248821 |
526 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7248819 rs542600670 |
529 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390218858 rs1234390010 |
532 | Q>K | No |
ClinGen gnomAD |
|
|
rs766762492 CA7248818 |
532 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 534 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390218820 rs773603494 |
535 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773603494 CA7248816 |
535 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390218799 rs1390507593 |
537 | Q>* | No |
ClinGen TOPMed |
|
|
rs376740511 CA263062188 |
537 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 538 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA263062169 rs767339644 |
539 | N>S | No |
ClinGen Ensembl |
|
|
CA390218764 rs1428012374 |
540 | R>C | No |
ClinGen gnomAD |
|
|
rs774295974 CA7248813 |
540 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390218748 rs749257120 |
541 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390218756 rs1473357924 |
541 | F>L | No |
ClinGen gnomAD |
|
|
rs768796741 CA7248812 |
541 | F>Y | No |
ClinGen ExAC |
|
|
rs769836685 CA7248809 |
542 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7248810 rs78610973 |
542 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373281157 CA7248808 |
543 | H>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1428972910 CA390218702 |
546 | I>V | No |
ClinGen gnomAD |
|
|
rs781038617 CA7248807 |
548 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7248806 rs756866099 |
549 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756866099 CA390218674 |
549 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054328977 CA263062098 |
550 | T>I | No |
ClinGen gnomAD |
|
|
CA390218660 rs1054328977 |
550 | T>K | No |
ClinGen gnomAD |
|
|
CA7248802 rs752171440 |
551 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248803 rs757864317 |
551 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA390218633 rs1566654650 |
552 | V>A | No |
ClinGen Ensembl |
|
|
rs369049683 CA7248800 |
553 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390218625 rs1566654645 |
553 | K>R | No |
ClinGen Ensembl |
|
|
CA390218615 rs1403680761 |
554 | C>R | No |
ClinGen Ensembl |
|
|
CA7248799 rs139422733 |
555 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390218583 rs1182280598 |
557 | P>A | No |
ClinGen gnomAD |
|
|
rs570589957 CA7248798 |
559 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390218546 rs1325927158 |
560 | M>L | No |
ClinGen gnomAD |
|
|
rs767853516 CA7248797 |
560 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146384000 CA7248795 |
562 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390218525 rs1292934636 |
562 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 563 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764297068 CA7248793 |
565 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 568 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 568 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374663773 CA7248791 |
568 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390218440 rs1257553881 |
569 | V>M | No |
ClinGen TOPMed |
|
|
rs1030649654 CA263061936 |
570 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs924678790 CA263061931 |
571 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 573 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7248789 rs140038278 |
574 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1265869275 CA390218373 |
576 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs903457527 CA263061873 |
578 | H>R | No |
ClinGen TOPMed |
|
|
rs776305162 CA7248788 |
579 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs770712348 CA7248787 |
580 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746672650 CA7248786 |
581 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA263061844 rs986328369 |
582 | Q>R | No |
ClinGen Ensembl |
|
|
CA390218273 rs1203480210 |
585 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1340990723 CA390218261 |
586 | L>F | No |
ClinGen gnomAD |
|
|
CA7248785 rs777443558 |
587 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 588 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390218201 rs1235842385 |
591 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390218202 rs1235842385 |
591 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs192301179 CA7248783 |
592 | W>* | No |
ClinGen 1000Genomes ExAC |
|
|
CA7248784 rs758023487 |
592 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1300002470 CA390218176 |
593 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs368597979 CA263061807 |
596 | Y>F | No |
ClinGen ESP |
|
|
rs953660019 CA263061798 |
597 | H>R | No |
ClinGen Ensembl |
|
|
CA263061780 rs775376552 |
599 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs566441927 CA263061771 |
601 | A>V | No |
ClinGen 1000Genomes |
|
|
CA7248780 rs750881041 |
602 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390218062 rs1336562817 |
604 | D>H | No |
ClinGen TOPMed |
|
|
CA7248779 rs201821793 |
605 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371919442 CA7248778 |
606 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371919442 CA7248777 |
606 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7248776 rs764472851 |
607 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7248774 rs548210327 |
608 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548210327 CA7248775 |
608 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390218012 rs1420152524 |
609 | K>Q | No |
ClinGen gnomAD |
|
|
CA7248771 rs776592076 |
613 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs776592076 CA263061712 |
613 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA7248769 rs746869829 |
614 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288864489 CA390217944 |
615 | G>S | No |
ClinGen gnomAD |
|
|
rs1280261730 CA390217893 |
619 | I>F | No |
ClinGen TOPMed |
|
|
rs771776243 CA390217881 |
620 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248767 rs771776243 |
620 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263061679 rs879121661 |
621 | I>V | No |
ClinGen Ensembl |
|
|
rs778405166 CA7248765 |
622 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248764 rs529674678 |
622 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1355792311 CA390217843 |
625 | C>R | No |
ClinGen gnomAD |
|
|
CA390217807 rs1314496988 |
628 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1397964901 CA390217785 |
629 | V>G | No |
ClinGen gnomAD |
|
|
CA263061628 rs1003980658 |
634 | A>T | No |
ClinGen Ensembl |
|
|
rs1307698155 CA390217725 |
635 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA263061618 rs971030772 |
636 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757695391 CA7248761 |
638 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA390217688 rs1157659091 |
638 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1051023601 CA263061605 |
639 | T>A | No |
ClinGen TOPMed |
|
|
CA263061603 rs367749946 |
640 | C>* | No |
ClinGen Ensembl |
|
|
CA390217580 rs1472557190 |
648 | N>D | No |
ClinGen gnomAD |
|
|
CA263061569 rs1024005029 |
648 | N>S | No |
ClinGen Ensembl |
|
|
CA390217555 rs1440320178 |
650 | Q>K | No |
ClinGen gnomAD |
|
|
CA390217531 rs1205203829 |
652 | C>R | No |
ClinGen gnomAD |
|
|
rs1327125797 CA390217511 |
653 | H>R | No |
ClinGen TOPMed |
|
|
rs113965969 CA7248756 |
654 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263061560 rs113965969 |
654 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390217494 rs1265713984 |
655 | N>D | No |
ClinGen gnomAD |
|
|
CA390217490 rs1227642788 |
655 | N>S | No |
ClinGen gnomAD |
|
|
rs1012830688 CA263061557 |
658 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs765439203 CA7248754 |
659 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760524175 CA7248750 |
665 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7248749 rs368238335 |
666 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457134533 CA390217362 |
667 | G>C | No |
ClinGen gnomAD |
|
|
rs761473055 CA7248747 |
667 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7248746 rs141912564 |
668 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768158998 CA7248745 |
670 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA263061519 rs999998694 |
675 | G>D | No |
ClinGen TOPMed |
|
|
CA263061501 rs879189813 |
676 | P>A | No |
ClinGen Ensembl |
|
|
rs779428789 CA7248743 |
676 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7248742 rs551271125 |
677 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA263061492 rs940640020 |
678 | P>T | No |
ClinGen TOPMed |
|
|
CA263061472 rs903029734 |
679 | K>E | No |
ClinGen gnomAD |
|
|
rs747464417 CA7248741 |
681 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778308611 CA7248740 |
682 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA390217270 rs1207582213 |
682 | M>V | No |
ClinGen gnomAD |
|
|
CA390217257 rs1275017198 |
683 | E>V | No |
ClinGen gnomAD |
|
|
CA7248739 rs758796268 |
684 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA263061459 rs944817763 |
685 | L>F | No |
ClinGen Ensembl |
|
|
rs909128038 CA263061450 |
687 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA263061448 rs201701584 |
688 | M>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7248737 rs779245540 |
689 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7248738 rs753081896 |
689 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA390217218 rs1434522430 |
690 | K>Q | No |
ClinGen gnomAD |
|
|
CA7248735 rs754014760 |
690 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs750308805 CA7248732 |
692 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112530813 CA7248731 |
692 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768425870 CA7248728 |
697 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs144548693 CA7248727 |
700 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369295788 CA390217153 |
700 | L>P | No |
ClinGen TOPMed |
|
|
CA7248726 rs775083370 |
702 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7248725 rs769141762 |
703 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7248723 rs747551951 |
709 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7248722 rs778464321 |
711 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7248721 rs746003526 |
712 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs746003526 CA390217077 |
712 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1371749609 CA390217043 |
716 | K>N | No |
ClinGen gnomAD |
|
|
CA7248720 rs61753549 |
717 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7248719 rs140037614 |
717 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1329939695 CA390217038 |
718 | T>A | No |
ClinGen gnomAD |
|
|
rs1595013572 CA390217034 |
718 | T>R | No |
ClinGen Ensembl |
|
|
rs1329939695 CA390217037 |
718 | T>S | No |
ClinGen gnomAD |
|
|
CA7248718 rs755231283 |
720 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1368312005 CA390217019 |
720 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 722 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780204552 CA7248716 |
723 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs756143531 CA7248715 |
724 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs750467732 CA7248714 |
726 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with O43506
6 regional properties for O43506
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase M12B, ADAM/reprolysin | 207 - 395 | IPR001590 |
| domain | Disintegrin domain | 407 - 493 | IPR001762 |
| domain | Peptidase M12B, propeptide | 57 - 159 | IPR002870 |
| domain | ADAM, cysteine-rich domain | 492 - 628 | IPR006586 |
| conserved_site | Disintegrin, conserved site | 447 - 466 | IPR018358 |
| domain | Reprolysin domain, adamalysin-type | 207 - 396 | IPR034027 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sperm head plasma membrane | The plasma membrane that is part of the head section of a sperm cell. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain 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. |
| metallopeptidase activity | Catalysis of the hydrolysis of peptide bonds 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 |
|---|---|
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| single fertilization | The union of male and female gametes to form a zygote. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8TC27 | ADAM32 | Disintegrin and metalloproteinase domain-containing protein 32 | Homo sapiens (Human) | PR |
| Q99965 | ADAM2 | Disintegrin and metalloproteinase domain-containing protein 2 | Homo sapiens (Human) | PR |
| Q9UKF2 | ADAM30 | Disintegrin and metalloproteinase domain-containing protein 30 | Homo sapiens (Human) | PR |
| Q9H013 | ADAM19 | Disintegrin and metalloproteinase domain-containing protein 19 | Homo sapiens (Human) | PR |
| O35674 | Adam19 | Disintegrin and metalloproteinase domain-containing protein 19 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVGEPLVHI | RVTLLLLWFG | MFLSISGHSQ | ARPSQYFTSP | EVVIPLKVIS | RGRGAKAPGW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSYSLRFGGQ | RYIVHMRVNK | LLFAAHLPVF | TYTEQHALLQ | DQPFIQDDCY | YHGYVEGVPE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLVALSTCSG | GFLGMLQIND | LVYEIKPISV | SATFEHLVYK | IDSDDTQFPP | MRCGLTEEKI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AHQMELQLSY | NFTLKQSSFV | GWWTHQRFVE | LVVVVDNIRY | LFSQSNATTV | QHEVFNVVNI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VDSFYHPLEV | DVILTGIDIW | TASNPLPTSG | DLDNVLEDFS | IWKNYNLNNR | LQHDVAHLFI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KDTQGMKLGV | AYVKGICQNP | FNTGVDVFED | NRLVVFAITL | GHELGHNLGM | QHDTQWCVCE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LQWCIMHAYR | KVTTKFSNCS | YAQYWDSTIS | SGLCIQPPPY | PGNIFRLKYC | GNLVVEEGEE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CDCGTIRQCA | KDPCCLLNCT | LHPGAACAFG | ICCKDCKFLP | SGTLCRQQVG | ECDLPEWCNG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TSHQCPDDVY | VQDGISCNVN | AFCYEKTCNN | HDIQCKEIFG | QDARSASQSC | YQEINTQGNR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FGHCGIVGTT | YVKCWTPDIM | CGRVQCENVG | VIPNLIEHST | VQQFHLNDTT | CWGTDYHLGM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AIPDIGEVKD | GTVCGPEKIC | IRKKCASMVH | LSQACQPKTC | NMRGICNNKQ | HCHCNHEWAP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PYCKDKGYGG | SADSGPPPKN | NMEGLNVMGK | LRYLSLLCLL | PLVAFLLFCL | HVLFKKRTKS |
| KEDEEG |