Q99542
PR
Gene name |
MMP19 (MMP18, RASI) |
Protein name |
Matrix metalloproteinase-19 |
Names |
MMP-19, Matrix metalloproteinase RASI, Matrix metalloproteinase-18, MMP-18 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4327 |
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 Q99542
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99542-F1 | Predicted | AlphaFoldDB |
472 variants for Q99542
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6618862 RCV000957288 rs17844787 RCV002502979 |
5 | Q>* | Familial cavitary optic disc anomaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000677220 CA385217367 rs1555176616 |
385 | Y>* | Interstitial lung disease 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768884200 CA6618863 |
2 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966628655 CA237606438 |
4 | Q>* | No |
ClinGen Ensembl |
|
|
rs147421269 CA6618860 |
7 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147421269 CA237606431 |
7 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1316028666 CA385224679 |
8 | L>M | No |
ClinGen TOPMed |
|
|
CA6618859 rs746443657 |
8 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1229370188 CA385224656 |
9 | G>D | No |
ClinGen gnomAD |
|
|
CA385224649 rs1229370188 |
9 | G>V | No |
ClinGen gnomAD |
|
|
CA385224636 rs1443924846 |
10 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6618858 rs777421991 |
10 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA385224638 rs1443924846 |
10 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA237606414 rs1036220107 |
12 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA385224598 rs1396383320 |
13 | P>T | No |
ClinGen gnomAD |
|
|
CA6618856 rs142814750 |
14 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142814750 CA6618855 |
14 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1156834048 CA385224499 |
17 | S>L | No |
ClinGen gnomAD |
|
|
CA385224509 rs1407355813 |
17 | S>P | No |
ClinGen gnomAD |
|
|
rs753819663 CA6618853 |
18 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618852 rs148657591 |
19 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA237606404 rs1001637184 |
19 | R>W | No |
ClinGen gnomAD |
|
|
rs1467453936 CA385224442 |
21 | L>V | No |
ClinGen gnomAD |
|
|
CA385224416 rs1222982607 |
22 | G>E | No |
ClinGen gnomAD |
|
|
CA385224427 rs1194899150 |
22 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 25 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592612543 CA385224334 |
26 | V>G | No |
ClinGen Ensembl |
|
|
rs143968044 CA6618849 |
27 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143968044 CA6618848 |
27 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769129048 CA6618846 |
28 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1565700388 CA385224275 |
29 | V>A | No |
ClinGen Ensembl |
|
|
CA385224286 rs776074983 |
29 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776074983 CA6618844 |
29 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618825 rs763394035 |
32 | L>V | No |
ClinGen ExAC |
|
|
rs1413079523 CA385223969 |
39 | Q>K | No |
ClinGen gnomAD |
|
|
rs1303669853 CA385223938 |
40 | K>* | No |
ClinGen gnomAD |
|
|
rs1303669853 CA385223941 |
40 | K>E | No |
ClinGen gnomAD |
|
|
rs759298435 CA237606188 |
41 | P>T | No |
ClinGen Ensembl |
|
|
rs778649836 CA6618816 |
43 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768154766 CA385223865 |
44 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6618815 rs768154766 |
44 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA385223799 rs1412715104 |
47 | N>D | No |
ClinGen TOPMed |
|
|
rs748942789 CA6618814 |
47 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs966086519 CA237606187 |
48 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs945059681 CA237606184 |
49 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6618813 rs754112173 |
53 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618811 rs77779483 |
55 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1351564222 CA385223434 |
59 | A>G | No |
ClinGen gnomAD |
|
|
rs746931057 CA6618790 |
61 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237605759 rs201172678 |
62 | E>Q | No |
ClinGen Ensembl |
|
|
CA237605755 rs777763138 |
63 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6618789 rs777763138 |
63 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 68 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385223361 rs1321908850 |
71 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA385223355 rs1300563547 |
71 | Q>H | No |
ClinGen TOPMed |
|
|
rs1565699233 CA385223357 |
71 | Q>L | No |
ClinGen Ensembl |
|
|
rs1009762286 CA385223349 |
73 | D>H | No |
ClinGen TOPMed |
|
|
rs1009762286 CA237605752 |
73 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 74 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385223331 rs1389045932 |
75 | A>D | No |
ClinGen gnomAD |
|
|
CA385223323 rs1254881531 |
76 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs537015598 CA6618786 |
77 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765387075 CA6618785 |
79 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749618891 CA6618784 |
79 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs749618891 CA237605742 |
79 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA385223309 rs765387075 |
79 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237605737 rs904832749 |
80 | M>T | No |
ClinGen Ensembl |
|
|
CA6618783 rs754161614 |
80 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1200808784 CA385223297 |
81 | R>M | No |
ClinGen gnomAD |
|
|
rs145239368 CA6618781 |
83 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618782 rs766699360 |
83 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766699360 CA385223285 |
83 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6618780 rs773760668 |
84 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200207111 CA6618779 |
84 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202159629 CA6618778 |
86 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385223258 rs1347349225 |
88 | E>Q | No |
ClinGen gnomAD |
|
|
CA6618777 rs267603575 |
89 | D>H | No |
ClinGen ExAC |
|
|
CA237605732 rs267603575 |
89 | D>N | No |
ClinGen ExAC |
|
|
CA6618776 rs369065371 |
90 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1273282667 CA385223244 |
90 | P>T | No |
ClinGen gnomAD |
|
|
CA385223215 rs1332008674 |
94 | K>E | No |
ClinGen gnomAD |
|
|
CA385223211 rs1295557960 |
94 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6618775 rs745684892 |
100 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17844794 RCV000880861 VAR_021036 CA6618760 |
103 | R>C | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs138487425 CA6618759 |
103 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138487425 CA6618758 |
103 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618761 rs17844794 |
103 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1395509052 CA385222555 |
104 | W>R | No |
ClinGen gnomAD |
|
|
CA6618757 rs757846717 |
106 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1466976500 CA385222456 |
108 | H>N | No |
ClinGen gnomAD |
|
|
rs1164091468 CA385222398 |
110 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6618754 rs145869255 |
112 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6618753 rs776408926 |
112 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6618752 rs140565014 |
114 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1250068119 CA385222282 |
115 | N>K | No |
ClinGen gnomAD |
|
|
rs1044483528 CA237602269 |
115 | N>S | No |
ClinGen TOPMed |
|
|
rs1197219167 CA385222268 |
116 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385222260 rs1320413341 |
117 | P>S | No |
ClinGen gnomAD |
|
|
rs773046631 CA6618749 |
121 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs1353688312 CA385222183 |
121 | P>S | No |
ClinGen gnomAD |
|
|
rs1285383486 CA385222168 |
122 | P>L | No |
ClinGen gnomAD |
|
|
CA6618747 rs748005229 |
123 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385222154 rs1328861256 |
123 | H>Q | No |
ClinGen gnomAD |
|
|
CA385222163 rs748005229 |
123 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201894718 CA385222128 |
126 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs151295753 CA385222123 |
126 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151295753 CA6618744 COSM1562004 |
126 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1362948 CA6618745 rs201894718 |
126 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6618742 rs199933583 |
127 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780185717 CA6618743 |
127 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 128 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6618741 rs750747930 |
128 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1215282 CA6618740 rs577927232 |
130 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6618739 rs757818669 |
130 | R>H | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA385222081 rs1291426179 |
131 | Q>* | No |
ClinGen TOPMed |
|
|
CA6618736 rs764896238 |
133 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204075258 CA385222036 |
134 | Q>H | No |
ClinGen gnomAD |
|
|
CA385222035 rs1250298801 |
135 | D>N | No |
ClinGen TOPMed |
|
|
COSM1705792 CA6618735 rs759110215 |
136 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA385222018 rs1459390595 |
136 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385222020 rs1459390595 |
136 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385222001 rs1213624489 |
137 | S>T | No |
ClinGen gnomAD |
|
|
rs565444873 CA6618734 |
138 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385221987 rs1592609335 |
139 | V>G | No |
ClinGen Ensembl |
|
|
CA385221983 rs1292626706 |
140 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA237602217 rs200946024 |
140 | A>V | No |
ClinGen Ensembl |
|
|
CA6618733 rs143310053 |
143 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385221966 rs1592609298 |
143 | T>P | No |
ClinGen Ensembl |
|
|
CA6618732 rs760420021 |
145 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6618731 rs773100051 |
147 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1377402838 CA385221872 |
150 | G>D | No |
ClinGen gnomAD |
|
|
CA6618728 rs538118420 |
151 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs900992518 CA237602193 |
153 | D>G | No |
ClinGen gnomAD |
|
|
rs201785839 CA6618726 |
153 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1592609218 CA385221829 |
154 | I>T | No |
ClinGen Ensembl |
|
|
rs780280725 CA6618725 |
154 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs368101801 CA6618724 |
155 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618723 rs746042953 |
155 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147680624 CA6618721 |
158 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs181316945 CA237602151 |
158 | F>S | No |
ClinGen 1000Genomes |
|
|
rs778355779 CA6618719 |
160 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs145356388 CA6618718 |
161 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753348919 CA6618717 |
161 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385221715 rs1324179384 |
163 | S>R | No |
ClinGen TOPMed |
|
|
CA6618716 rs139837434 |
164 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385221680 rs1279158843 |
165 | Y>C | No |
ClinGen gnomAD |
|
|
CA6618714 rs750032895 |
166 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs767415935 CA6618713 |
168 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385221622 rs1278679742 |
170 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 172 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385221588 rs1339947246 |
173 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs951404542 CA237602113 |
173 | P>H | No |
ClinGen TOPMed |
|
|
rs1339947246 CA385221586 |
173 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM549026 CA385221577 rs1187616475 |
174 | G>W | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1477875154 CA385221517 |
175 | R>G | No |
ClinGen gnomAD |
|
|
CA237601680 rs751418322 |
175 | R>K | No |
ClinGen Ensembl |
|
|
rs201817493 CA237601677 |
178 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs199544456 CA6618694 |
179 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1355956214 CA385221491 |
179 | H>R | No |
ClinGen TOPMed |
|
|
CA385221488 rs1456251434 |
180 | A>T | No |
ClinGen gnomAD |
|
|
CA237601672 rs1021447439 |
180 | A>V | No |
ClinGen Ensembl |
|
|
CA385221483 rs1011453238 |
181 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA237601656 rs1011453238 |
181 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385221460 rs1312014020 |
184 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385221449 rs1381691138 |
186 | G>S | No |
ClinGen gnomAD |
|
|
rs374618489 CA6618691 |
186 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385221442 rs1446577027 |
187 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385221441 rs1446577027 |
187 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6618690 rs775274374 |
188 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA385221426 rs1333990324 |
189 | H>Q | No |
ClinGen gnomAD |
|
|
rs193043832 CA237601638 |
189 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs573874999 CA6618687 |
191 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1367401751 CA385221417 |
191 | D>N | No |
ClinGen gnomAD |
|
|
CA237601616 rs555384599 |
192 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
rs555384599 CA6618686 |
192 | E>Q | No |
ClinGen 1000Genomes ExAC |
|
|
CA6618683 rs536616162 COSM172101 |
194 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA385221358 rs1456291281 |
195 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs139588326 CA6618682 |
195 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385221354 rs1430439018 |
196 | W>R | No |
ClinGen TOPMed |
|
|
rs748733444 CA6618680 |
202 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200285204 CA6618679 |
202 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385221265 CA385221266 rs868823222 |
203 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6618678 rs769362237 |
203 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA237601579 rs868823222 |
203 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6618677 rs745324840 |
205 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs567533354 CA237601569 COSM1362947 |
207 | R>C | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA237601566 rs371364453 |
207 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371364453 CA385221216 |
207 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs567533354 CA385221222 |
207 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1301077244 CA385221194 |
208 | I>N | No |
ClinGen TOPMed |
|
|
CA6618676 rs150560211 |
209 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385221182 rs1392322538 |
209 | I>V | No |
ClinGen gnomAD |
|
|
rs756940158 CA6618675 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751187262 CA6618674 |
210 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1382336791 CA385221079 |
214 | V>A | No |
ClinGen TOPMed |
|
|
CA6618673 rs370689947 |
214 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 216 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 216 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6618668 rs753820170 |
217 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs142588632 CA6618669 |
217 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385220979 rs1192803366 |
219 | G>W | No |
ClinGen gnomAD |
|
|
CA6618664 rs148431571 |
224 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618663 rs143467015 |
224 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385220873 rs1288426258 |
225 | Y>C | No |
ClinGen gnomAD |
|
|
rs146202506 CA237601526 |
225 | Y>N | No |
ClinGen ESP TOPMed |
|
|
rs769008859 CA6618661 |
226 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6618660 rs749775097 |
228 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388988621 CA385220800 |
228 | A>V | No |
ClinGen gnomAD |
|
|
rs770410679 CA6618658 |
229 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs553777918 CA6618657 |
230 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6618656 rs777337792 |
231 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA237601496 rs943823010 |
232 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385220742 rs1159044402 |
232 | P>S | No |
ClinGen gnomAD |
|
|
rs1592607375 CA385220729 |
233 | V>F | No |
ClinGen Ensembl |
|
|
CA6618654 rs752383396 |
235 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138516871 CA6618651 |
238 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754912368 CA6618652 |
238 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385220630 rs1565697585 |
239 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 239 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237601483 rs947691718 |
242 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA237601480 rs916534038 |
243 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6618648 rs750689882 |
244 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1056784 RCV000953317 VAR_054006 CA6618646 |
245 | P>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6618645 rs774621996 |
246 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs201564697 CA6618643 |
247 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375720920 CA6618644 |
247 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775968529 CA6618642 |
248 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385220442 rs1395024026 |
249 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770429321 CA385220419 |
250 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618641 rs770429321 |
250 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385220411 rs1592607247 |
251 | I>V | No |
ClinGen Ensembl |
|
|
rs200711563 CA237601451 |
253 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385220377 rs746455799 |
253 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618640 rs746455799 |
253 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200711563 CA6618639 |
253 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6618638 rs771584264 |
254 | L>V | No |
ClinGen ExAC TOPMed |
|
|
rs370216842 CA6618636 |
255 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754799116 CA6618634 |
256 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA385219827 rs1353624169 |
257 | K>Q | No |
ClinGen gnomAD |
|
|
CA6618611 rs373219794 |
257 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385219733 rs1327770076 |
262 | I>T | No |
ClinGen TOPMed |
|
|
rs1306732697 CA385219740 |
262 | I>V | No |
ClinGen gnomAD |
|
|
rs751732515 CA6618609 |
263 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6618608 rs764316231 |
265 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618607 rs758711137 |
267 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 268 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753019666 CA6618606 |
268 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753019666 CA237601006 |
268 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388621427 CA385219616 |
269 | E>K | No |
ClinGen gnomAD |
|
|
rs765555025 CA6618604 |
271 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6618601 rs760085316 |
273 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618600 rs777119142 |
274 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs766942080 CA6618599 |
275 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1291315283 CA385219484 |
276 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6618597 rs773899473 |
276 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618595 rs138914662 |
277 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618596 rs768317442 |
277 | P>S | No |
ClinGen ExAC |
|
|
CA385219450 rs1352597819 |
279 | P>L | No |
ClinGen gnomAD |
|
|
CA6618593 rs769703002 |
282 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6618594 rs775477507 |
282 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237600939 rs745862921 |
284 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618592 rs745862921 |
284 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770926355 CA6618591 |
285 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs770926355 CA6618590 |
285 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1329432591 CA385219327 |
286 | P>S | No |
ClinGen gnomAD |
|
|
CA6618589 rs747060381 |
288 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385219289 rs1170223966 |
288 | P>T | No |
ClinGen TOPMed |
|
|
CA237600924 rs372490290 |
290 | S>N | No |
ClinGen ESP TOPMed |
|
|
CA6618588 rs777887188 |
290 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs752893251 CA6618586 |
291 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1364883353 CA385219262 |
292 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 294 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592605863 CA385219231 |
296 | M>T | No |
ClinGen Ensembl |
|
|
CA385219234 rs1313242785 |
296 | M>V | No |
ClinGen TOPMed |
|
|
rs779307393 CA6618585 |
297 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs202240677 CA6618541 |
299 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368226088 CA6618584 |
299 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618537 rs758007752 |
300 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6618538 rs758007752 |
300 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs150245388 CA6618539 |
300 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618540 rs150245388 |
300 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752217104 CA6618536 |
301 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1362944 CA6618535 rs749262995 |
301 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs920428570 CA237600546 |
303 | K>N | No |
ClinGen Ensembl |
|
|
CA385218927 rs1162267120 |
304 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1592604874 CA385218932 |
304 | T>P | No |
ClinGen Ensembl |
|
|
rs754711050 CA6618534 |
305 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA385218914 rs1177845626 |
306 | A>V | No |
ClinGen gnomAD |
|
|
CA385218902 rs1389575453 |
307 | F>L | No |
ClinGen TOPMed |
|
|
CA6618532 rs141023737 |
307 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773155600 CA6618530 |
309 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1264872059 CA385218875 COSM1705790 |
310 | D>G | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6618529 rs767400606 |
310 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761706209 CA385218842 |
312 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs761706209 CA6618528 |
312 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6618527 rs774461300 |
313 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200260718 CA237600508 |
314 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6618526 rs768705710 |
315 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA385218694 rs1565696089 |
319 | G>R | No |
ClinGen Ensembl |
|
|
CA6618525 rs779833903 |
320 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392415327 CA385218649 |
321 | G>V | No |
ClinGen gnomAD |
|
|
CA385218622 rs1300804605 |
322 | P>L | No |
ClinGen gnomAD |
|
|
CA385218584 rs1365435024 |
324 | F>C | No |
ClinGen TOPMed |
|
|
rs781773167 CA385218569 |
325 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 325 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385218536 rs1206497027 |
326 | V>A | No |
ClinGen TOPMed |
|
|
CA6618520 rs757881198 |
326 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385218483 rs1417653852 |
329 | L>F | No |
ClinGen gnomAD |
|
|
CA385218450 rs1484219363 |
330 | W>* | No |
ClinGen Ensembl |
|
|
rs1592604629 CA385218458 |
330 | W>* | No |
ClinGen Ensembl |
|
|
rs778625522 CA6618518 |
332 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6618516 rs753532640 |
333 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs370803104 CA6618514 |
335 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385218329 rs1246583953 |
337 | L>M | No |
ClinGen TOPMed |
|
|
rs1216110652 CA385218295 |
338 | D>E | No |
ClinGen gnomAD |
|
|
rs1479758128 CA385218300 |
338 | D>G | No |
ClinGen TOPMed |
|
|
rs1212527682 CA385218262 |
340 | A>V | No |
ClinGen gnomAD |
|
|
CA6618513 rs138407292 |
343 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1705789 CA6618512 rs138407292 |
343 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6618510 rs147055487 |
344 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764234430 CA6618509 |
345 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618508 rs762888609 |
345 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM191780 CA385218173 rs762888609 |
345 | R>Q | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs775807413 CA6618507 |
346 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 347 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769870508 CA6618506 |
348 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA385218094 rs1392591506 |
349 | I>F | No |
ClinGen TOPMed |
|
|
rs1405691121 CA385218078 |
349 | I>M | No |
ClinGen TOPMed |
|
|
rs759775324 CA6618505 |
350 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs771409903 CA6618503 |
354 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385217983 rs771409903 |
354 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349453404 CA385217876 |
355 | D>E | No |
ClinGen gnomAD |
|
|
rs147872854 CA237600291 |
356 | K>E | No |
ClinGen ESP TOPMed |
|
|
rs77460913 CA6618483 |
357 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6618482 rs773799770 |
358 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113058577 COSM468642 CA6618481 |
359 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM941418 CA6618479 rs779486182 |
359 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6618480 rs779486182 |
359 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113058577 CA385217815 |
359 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6618478 rs77793299 |
360 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1231234562 CA385217797 |
360 | Y>H | No |
ClinGen TOPMed |
|
|
CA385217777 rs1185980405 |
361 | I>L | No |
ClinGen gnomAD |
|
|
rs1185980405 CA385217775 |
361 | I>V | No |
ClinGen gnomAD |
|
|
TCGA novel rs201808957 CA6618476 |
363 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes ExAC gnomAD |
| TCGA novel | 364 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377158299 CA6618475 |
364 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618474 rs751318458 |
365 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1251561836 CA385217680 |
366 | S>F | No |
ClinGen gnomAD |
|
|
rs777596025 CA6618473 |
366 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA385217669 rs1243527525 |
367 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385217649 rs142242310 |
368 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618472 rs142242310 |
368 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752668004 CA6618470 |
377 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201586295 CA237600259 |
379 | N>H | No |
ClinGen TOPMed |
|
|
rs755042832 CA6618468 |
380 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149111153 CA6618469 |
380 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145042922 CA6618467 |
381 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 386 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237600250 rs145737232 |
387 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1185882656 CA385217341 |
387 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 388 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385217302 rs1251420105 |
390 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1592603909 CA385217263 |
391 | K>N | No |
ClinGen Ensembl |
|
|
rs1489628208 CA385217116 |
397 | G>C | No |
ClinGen gnomAD |
|
|
COSM3376309 CA6618446 rs146221525 |
399 | G>R | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1281814131 CA385217061 |
400 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6618445 rs750651867 |
404 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA385216962 rs1411260986 |
405 | E>D | No |
ClinGen gnomAD |
|
|
CA6618444 rs556682006 COSM941417 |
405 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1373801848 CA385216935 |
407 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6618443 rs535438364 |
408 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764541674 CA6618442 |
408 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM941416 CA6618441 rs764541674 |
408 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763423833 CA6618440 |
409 | T>I | No |
ClinGen ExAC |
|
|
rs1229226101 CA385216899 |
410 | D>G | No |
ClinGen TOPMed |
|
|
CA385216888 rs1306503989 |
411 | F>I | No |
ClinGen TOPMed |
|
|
rs776170640 CA6618439 |
413 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770418664 CA385216807 |
415 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770418664 CA6618438 |
415 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385216759 rs772856078 |
418 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618437 rs746707594 |
418 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA385216754 rs1176280262 |
419 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA237600110 rs958590122 |
420 | G>R | No |
ClinGen Ensembl |
|
|
CA6618435 rs771776856 |
422 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 423 | T>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6618434 rs747927965 |
423 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1474911919 CA385216651 |
425 | V>G | No |
ClinGen gnomAD |
|
|
rs1483124046 CA385216657 |
425 | V>L | No |
ClinGen TOPMed |
|
|
rs1180853570 CA385216640 |
426 | P>R | No |
ClinGen TOPMed |
|
|
rs1592603377 CA385216622 |
427 | N>T | No |
ClinGen Ensembl |
|
|
CA385216597 rs1405291660 |
429 | P>S | No |
ClinGen TOPMed |
|
|
rs372055008 CA6618430 |
430 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372055008 CA6618431 |
430 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6618428 rs139832885 |
431 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757591018 CA6618425 CA237600045 |
433 | M>I | No |
ClinGen ExAC |
|
|
rs781422308 CA6618426 |
433 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1372973449 CA385216540 |
433 | M>V | No |
ClinGen TOPMed |
|
|
rs1285336017 CA385216515 |
434 | S>N | No |
ClinGen gnomAD |
|
|
CA6618423 rs751999666 |
436 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA237600031 rs370581352 |
437 | D>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6618422 rs764423562 |
437 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA237600028 rs758525325 |
439 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs145643499 CA6618421 |
439 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385216430 rs1592603237 |
440 | V>G | No |
ClinGen Ensembl |
|
|
rs753201607 CA6618420 |
441 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs945587668 CA237600018 |
442 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1176613898 CA385216410 COSM3710942 |
442 | F>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs760176001 CA6618418 |
443 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1417011527 CA385216405 |
443 | F>S | No |
ClinGen gnomAD |
|
|
rs1187864692 CA385216397 |
444 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs199827127 CA6618417 |
445 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1181510936 CA385216365 |
447 | V>D | No |
ClinGen gnomAD |
|
|
rs139391771 CA6618416 |
447 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385216322 rs1210969141 |
449 | W>C | No |
ClinGen gnomAD |
|
|
rs570288221 CA385216336 |
449 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570288221 CA6618414 |
449 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6618413 rs529645203 |
450 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145938503 CA6618412 |
450 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145938503 CA385216315 |
450 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA237599990 rs529645203 |
450 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237599975 rs753310505 |
452 | N>S | No |
ClinGen Ensembl |
|
|
rs1363111789 CA385216243 |
454 | Q>* | No |
ClinGen gnomAD |
|
|
CA6618410 rs769782930 |
454 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1592603115 CA385216230 |
455 | L>F | No |
ClinGen Ensembl |
|
|
rs530702678 CA6618409 |
456 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs150724096 CA6618408 |
456 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150724096 CA6618407 RCV000952980 |
456 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6618406 rs370226628 |
457 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618405 rs778180464 |
460 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs758697442 CA6618403 |
462 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA385216109 rs1352906459 |
462 | P>S | No |
ClinGen TOPMed |
|
|
rs753218178 CA6618402 |
463 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6618401 rs759979690 |
464 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385216002 rs1303691308 |
469 | W>* | No |
ClinGen TOPMed |
|
|
rs1318552276 CA385215992 |
469 | W>C | No |
ClinGen gnomAD |
|
|
rs756520529 CA237599938 |
472 | C>S | No |
ClinGen gnomAD |
|
|
CA6618399 rs377745970 |
473 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6618400 rs377745970 |
473 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766923583 CA6618398 |
473 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618396 rs144373478 |
475 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1512657 rs144373478 CA6618395 |
475 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6618397 rs78648991 |
475 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385215844 rs1343225156 |
479 | T>I | No |
ClinGen gnomAD |
|
|
CA6618394 rs571252212 |
480 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6618393 rs148639878 |
480 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6618392 rs148639878 |
480 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 481 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385215790 rs952823154 |
483 | G>A | No |
ClinGen TOPMed |
|
|
CA237599903 rs952823154 |
483 | G>D | No |
ClinGen TOPMed |
|
|
rs1361978682 CA385215798 |
483 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 484 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000895532 CA6618390 rs145965552 |
484 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs145965552 CA385215782 |
484 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1371792449 CA385215747 |
486 | T>N | No |
ClinGen gnomAD |
|
|
rs1592602857 CA385215741 |
487 | T>P | No |
ClinGen Ensembl |
|
|
rs17118042 VAR_021037 CA6618389 RCV000957079 |
488 | P>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1245700382 CA385215695 |
490 | G>V | No |
ClinGen gnomAD |
|
|
COSM1362942 rs17844806 VAR_021038 CA6618388 |
491 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA385215668 rs1300842681 |
492 | G>V | No |
ClinGen gnomAD |
|
|
CA385215662 rs1468440146 |
493 | I>T | No |
ClinGen TOPMed |
|
|
rs758787421 CA6618386 |
494 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6618385 rs748472930 |
497 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6618384 rs779117165 |
498 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389187675 CA385215628 |
499 | L>F | No |
ClinGen TOPMed |
|
|
rs138005116 CA6618382 |
500 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6618380 rs141637965 |
501 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs575803891 CA6618378 |
505 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
1 associated diseases with Q99542
[MIM: 611543]: Cavitary optic disc anomalies (CODA)
An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss. {ECO:0000269|PubMed:25581579}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss. {ECO:0000269|PubMed:25581579}. Note=The disease is caused by variants affecting the gene represented in this entry.
9 regional properties for Q99542
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Hemopexin-like domain | 286 - 472 | IPR000585 |
| domain | Peptidase M10, metallopeptidase | 103 - 256 | IPR001818 |
| domain | Peptidoglycan binding-like | 30 - 80 | IPR002477 |
| domain | Peptidase, metallopeptidase | 100 - 257 | IPR006026 |
| repeat | Hemopexin-like repeats | 286 - 335 | IPR018487-1 |
| repeat | Hemopexin-like repeats | 334 - 380 | IPR018487-2 |
| repeat | Hemopexin-like repeats | 380 - 427 | IPR018487-3 |
| repeat | Hemopexin-like repeats | 426 - 472 | IPR018487-4 |
| domain | Peptidase M10A, catalytic domain | 103 - 256 | IPR033739 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular matrix | A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| serine-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). |
| zinc ion binding | Binding to a zinc ion (Zn). |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| collagen catabolic process | The proteolytic chemical reactions and pathways resulting in the breakdown of collagen in the extracellular matrix, usually carried out by proteases secreted by nearby cells. |
| extracellular matrix disassembly | A process that results in the breakdown of the extracellular matrix. |
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| luteolysis | The lysis or structural demise of the corpus luteum. During normal luteolysis, two closely related events occur. First, there is loss of the capacity to synthesize and secrete progesterone (functional luteolysis) followed by loss of the cells that comprise the corpus luteum (structural luteolysis). Preventing luteolysis is crucial to maintain pregnancy. |
| ovarian follicle development | The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure. |
| ovulation from ovarian follicle | The process leading to the rupture of the follicle, releasing the centrally located oocyte into the oviduct. An example of this is found in Mus musculus. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| response to cAMP | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| response to hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZV7 | HPX | Hemopexin | Bos taurus (Bovine) | PR |
| O77656 | MMP13 | Collagenase 3 | Bos taurus (Bovine) | PR |
| Q9GLE5 | MMP2 | 72 kDa type IV collagenase | Bos taurus (Bovine) | PR |
| Q90611 | MMP2 | 72 kDa type IV collagenase | Gallus gallus (Chicken) | PR |
| Q8MPP3 | Mmp2 | Matrix metalloproteinase-2 | Drosophila melanogaster (Fruit fly) | PR |
| P04004 | VTN | Vitronectin | Homo sapiens (Human) | PR |
| Q9H239 | MMP28 | Matrix metalloproteinase-28 | Homo sapiens (Human) | PR |
| Q9NPA2 | MMP25 | Matrix metalloproteinase-25 | Homo sapiens (Human) | PR |
| P45452 | MMP13 | Collagenase 3 | Homo sapiens (Human) | PR |
| P34960 | Mmp12 | Macrophage metalloelastase | Mus musculus (Mouse) | PR |
| P33435 | Mmp13 | Collagenase 3 | Mus musculus (Mouse) | PR |
| P33434 | Mmp2 | 72 kDa type IV collagenase | Mus musculus (Mouse) | PR |
| P28862 | Mmp3 | Stromelysin-1 | Mus musculus (Mouse) | PR |
| P23097 | Mmp13 | Collagenase 3 | Rattus norvegicus (Rat) | PR |
| Q63341 | Mmp12 | Macrophage metalloelastase | Rattus norvegicus (Rat) | PR |
| P33436 | Mmp2 | 72 kDa type IV collagenase | Rattus norvegicus (Rat) | PR |
| Q6PHG2 | hpx | Hemopexin | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNCQQLWLGF | LLPMTVSGRV | LGLAEVAPVD | YLSQYGYLQK | PLEGSNNFKP | EDITEALRAF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QEASELPVSG | QLDDATRARM | RQPRCGLEDP | FNQKTLKYLL | LGRWRKKHLT | FRILNLPSTL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PPHTARAALR | QAFQDWSNVA | PLTFQEVQAG | AADIRLSFHG | RQSSYCSNTF | DGPGRVLAHA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DIPELGSVHF | DEDEFWTEGT | YRGVNLRIIA | AHEVGHALGL | GHSRYSQALM | APVYEGYRPH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FKLHPDDVAG | IQALYGKKSP | VIRDEEEEET | ELPTVPPVPT | EPSPMPDPCS | SELDAMMLGP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RGKTYAFKGD | YVWTVSDSGP | GPLFRVSALW | EGLPGNLDAA | VYSPRTQWIH | FFKGDKVWRY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| INFKMSPGFP | KKLNRVEPNL | DAALYWPLNQ | KVFLFKGSGY | WQWDELARTD | FSSYPKPIKG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LFTGVPNQPS | AAMSWQDGRV | YFFKGKVYWR | LNQQLRVEKG | YPRNISHNWM | HCRPRTIDTT |
| 490 | 500 | ||||
| PSGGNTTPSG | TGITLDTTLS | ATETTFEY |