P49023
PR
Gene name |
PXN |
Protein name |
Paxillin |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5829 |
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
25 structures for P49023
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1OW6 | X-ray | 235 A | D/F | 262-274 | PDB |
| 1OW7 | X-ray | 260 A | D/E/F | 262-274 | PDB |
| 1OW8 | X-ray | 285 A | D/F | 141-153 | PDB |
| 2K2R | NMR | - | B | 3-12 | PDB |
| 2O9V | X-ray | 163 A | B | 45-54 | PDB |
| 2VZD | X-ray | 210 A | C/D | 1-20 | PDB |
| 2VZG | X-ray | 180 A | A | 141-160 | PDB |
| 2VZI | X-ray | 220 A | A | 262-277 | PDB |
| 3GM1 | X-ray | 295 A | C/D/E/F | 262-274 | PDB |
| 3PY7 | X-ray | 229 A | A | 1-10 | PDB |
| 3RQE | X-ray | 280 A | E | 2-15 | PDB |
| 3RQF | X-ray | 270 A | E | 141-153 | PDB |
| 3RQG | X-ray | 250 A | E | 262-274 | PDB |
| 3U3F | X-ray | 310 A | E/F/G/H/I/J | 261-277 | PDB |
| 4EDN | X-ray | 290 A | K/L/M/N/O/P/Q | 1-20 | PDB |
| 4R32 | X-ray | 370 A | B/C | 139-160 | PDB |
| 4XGZ | X-ray | 250 A | a/c/e/g/h/j/m/o/q/s/u/w | 141-159 | PDB |
| 4XH2 | X-ray | 200 A | a/c/e/g/h/j | 261-275 | PDB |
| 5UWH | X-ray | 226 A | D | 264-277 | PDB |
| 6IUI | X-ray | 260 A | C/D | 261-280 | PDB |
| 6PW8 | X-ray | 195 A | B | 141-153 | PDB |
| 6U4M | NMR | - | A | 527-591 | PDB |
| 6U4N | NMR | - | B | 527-591 | PDB |
| 7QB0 | NMR | - | A | 414-533 | PDB |
| AF-P49023-F1 | Predicted | AlphaFoldDB |
523 variants for P49023
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1445508483 CA386567030 |
3 | D>E | No |
ClinGen gnomAD |
|
|
rs767605379 CA6827072 |
3 | D>H | No |
ClinGen ExAC |
|
|
rs759669028 CA6827071 |
4 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200236405 CA6827023 |
5 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748821995 CA6827022 |
6 | A>T | Variant assessed as Somatic; 4.687e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1489930336 CA386560311 |
8 | L>P | No |
ClinGen gnomAD |
|
|
rs1286547378 CA386560309 |
9 | A>T | No |
ClinGen gnomAD |
|
|
CA6827021 rs566420448 |
9 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 10 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386560281 rs1194180126 |
13 | S>P | No |
ClinGen TOPMed |
|
|
CA386560270 rs1225338285 |
14 | T>N | No |
ClinGen gnomAD |
|
|
rs546278747 CA6827018 |
17 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1327840456 CA386560238 |
19 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6827015 rs758335045 |
21 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6827014 rs758335045 |
21 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751358222 CA6827016 |
21 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6827012 rs765244003 |
22 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757350974 CA6827011 COSM241323 |
22 | P>L | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6827009 rs764265687 |
23 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6827010 rs202176482 |
23 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386560205 rs1477211527 |
25 | L>F | No |
ClinGen gnomAD |
|
|
rs1244067206 CA386560204 |
26 | S>A | No |
ClinGen gnomAD |
|
|
CA6827008 rs553635725 |
26 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 29 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6827006 rs768068233 |
29 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs570642293 CA6827004 |
34 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375818119 CA6827002 |
39 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375818119 CA6827003 |
39 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768248777 CA6827000 |
40 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746814882 CA6826999 |
42 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369346056 CA6826998 |
43 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 44 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386559992 rs1226299021 |
44 | A>V | No |
ClinGen gnomAD |
|
|
CA386559988 rs745756998 |
45 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826996 rs745756998 |
45 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244410614 rs1032888819 |
47 | P>L | No |
ClinGen TOPMed |
|
|
CA6826994 rs530696603 |
47 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6826995 rs530696603 |
47 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs191081138 CA6826990 |
49 | V>I | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
| rs758654594 | 49 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386559922 rs1454157371 |
50 | P>L | No |
ClinGen gnomAD |
|
|
rs756362002 CA6826988 |
50 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756362002 CA386559930 |
50 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386559912 rs767722707 |
51 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826986 rs767722707 |
51 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826987 rs767722707 |
51 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826984 rs774965749 |
52 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774965749 CA6826985 |
52 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826983 rs767039127 |
53 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6826979 rs542303284 |
56 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386559837 rs1439467829 |
57 | A>V | No |
ClinGen gnomAD |
|
|
rs1273495332 CA386559818 |
59 | N>D | No |
ClinGen gnomAD |
|
|
CA6826978 rs746584702 |
59 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1337067741 CA386559780 |
62 | I>V | No |
ClinGen gnomAD |
|
|
rs1246081182 CA386559762 |
63 | L>P | No |
ClinGen gnomAD |
|
|
CA386559751 rs1594408934 |
64 | D>A | No |
ClinGen Ensembl |
|
|
rs775232309 CA386559756 |
64 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs775232309 CA6826977 |
64 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1312266721 CA386559742 |
65 | P>S | No |
ClinGen gnomAD |
|
|
CA386559704 rs771814884 |
67 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA6826976 rs771814884 |
67 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386559638 rs1409688504 |
71 | P>L | No |
ClinGen gnomAD |
|
|
CA386559644 rs1329994943 |
71 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386559617 rs4767884 |
73 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4767884 CA6826972 VAR_065099 |
73 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1384737409 CA386559616 |
73 | S>N | No |
ClinGen gnomAD |
|
|
rs752818425 CA6826969 |
74 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826970 rs752818425 |
74 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755369736 CA6826967 |
75 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556617318 CA6826966 |
75 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556617318 CA6826965 |
75 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386559571 rs1222849251 |
76 | F>L | No |
ClinGen gnomAD |
|
|
CA386559580 rs1293668538 |
76 | F>Y | No |
ClinGen gnomAD |
|
|
rs763487491 CA6826964 |
77 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs763464218 CA386559545 |
78 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1280579179 CA386559524 |
80 | Q>* | No |
ClinGen gnomAD |
|
|
CA386559514 rs1442105556 |
80 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1280579179 CA386559527 |
80 | Q>K | No |
ClinGen gnomAD |
|
|
rs200073337 CA6826951 |
81 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386559017 rs1479948404 |
83 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1479948404 CA386559018 |
83 | S>Y | No |
ClinGen gnomAD |
|
|
CA6826950 rs755316695 |
84 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826947 rs370552709 |
86 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750854924 CA6826946 |
87 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 87 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6826945 rs765813826 |
88 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs375675842 CA6826943 |
89 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6826942 rs375675842 |
89 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1312047339 CA386558977 |
91 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1312047339 CA386558978 |
91 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386558974 rs1299629572 |
91 | S>T | No |
ClinGen gnomAD |
|
|
rs1362888995 CA386558952 |
94 | T>N | No |
ClinGen gnomAD |
|
|
rs774010199 CA6826940 |
95 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244410372 rs769985158 |
96 | S>G | No |
ClinGen Ensembl |
|
|
CA386558941 rs1408212307 |
96 | S>I | No |
ClinGen gnomAD |
|
|
rs898259914 CA244410367 |
97 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386558931 rs1172226604 |
98 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1373022949 CA386558928 |
98 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1172226604 CA386558932 |
98 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1428779969 CA386558917 |
100 | P>S | No |
ClinGen gnomAD |
|
|
CA386558908 rs1418288625 |
101 | Q>L | No |
ClinGen gnomAD |
|
|
CA386558894 rs1186136474 |
103 | S>N | No |
ClinGen gnomAD |
|
|
CA6826935 rs748170883 |
106 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1243216556 CA386558876 |
106 | S>P | No |
ClinGen gnomAD |
|
|
CA6826934 rs201674533 |
107 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035223185 CA244410359 |
108 | C>R | No |
ClinGen Ensembl |
|
|
CA6826932 rs371109288 |
109 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1387388078 CA386558859 |
109 | S>P | No |
ClinGen TOPMed |
|
|
CA6826931 rs780455015 |
110 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758660318 CA6826930 |
111 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA244410296 rs377641479 |
112 | G>A | No |
ClinGen ESP TOPMed |
|
|
rs746570924 CA244410310 |
112 | G>C | No |
ClinGen Ensembl |
|
|
rs568214579 CA386558828 |
114 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867162746 CA244410288 |
115 | E>* | No |
ClinGen Ensembl |
|
|
CA6826928 rs373525178 |
116 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386558816 rs1395424784 |
116 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386558817 rs1315789070 |
116 | H>Y | No |
ClinGen gnomAD |
|
|
CA6826926 rs754349716 |
117 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1462251062 CA386558803 |
118 | Y>C | No |
ClinGen gnomAD |
|
|
rs1166402307 CA386558799 |
119 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6826925 rs766959103 |
119 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6826911 rs779273808 |
121 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826908 rs778288721 |
122 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs372954152 CA6826909 |
122 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1201330351 CA386558759 |
123 | K>Q | No |
ClinGen TOPMed |
|
|
CA244409503 rs78768932 |
127 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6826906 rs78768932 |
127 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6826905 rs765940568 |
127 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6826904 rs201116189 |
129 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750055610 CA6826903 |
131 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6826901 rs199723115 |
133 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386558680 rs1453235432 |
135 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 136 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6826900 rs561227657 |
136 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386558654 rs1466377017 |
139 | G>D | No |
ClinGen TOPMed |
|
|
CA6826897 rs775781690 |
140 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1411808809 CA386558640 |
141 | N>S | No |
ClinGen gnomAD |
|
|
rs1157415728 CA386558635 |
142 | L>V | No |
ClinGen gnomAD |
|
|
CA6826895 rs746047714 |
145 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375121495 CA244409456 |
146 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375121495 CA244409460 |
146 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs771290888 CA6826893 COSM1152476 COSM935900 |
147 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6826892 COSM935899 COSM1586240 rs749697934 |
147 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6826888 rs757867300 |
154 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757867300 CA6826887 |
154 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750052251 CA6826886 |
155 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594398784 CA386558537 |
158 | N>T | No |
ClinGen Ensembl |
|
|
CA244409417 rs373692497 |
159 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386558523 rs1388555163 |
160 | P>Q | No |
ClinGen gnomAD |
|
|
CA386558525 rs1207497949 |
160 | P>S | No |
ClinGen TOPMed |
|
|
CA386558518 rs1319214518 |
161 | G>A | No |
ClinGen gnomAD |
|
|
rs367683661 CA244409375 |
162 | F>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs767587696 CA6826879 |
164 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1566385922 CA386558445 |
165 | D>E | No |
ClinGen Ensembl |
|
|
CA6826862 rs755998116 |
167 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826861 rs375078874 |
168 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6826860 rs759679585 |
171 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751530020 CA6826858 |
171 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6826859 rs759679585 |
171 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3739464 rs766445393 COSM3739463 CA386558361 |
172 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA386558363 rs766445393 |
172 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766445393 CA6826857 |
172 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386558340 rs1293358683 |
174 | P>L | No |
ClinGen gnomAD |
|
|
rs1246013011 CA386558318 |
176 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386558296 rs1284055511 |
178 | S>R | No |
ClinGen gnomAD |
|
|
CA244409255 rs1054624969 |
178 | S>T | No |
ClinGen gnomAD |
|
|
rs1315388411 CA386558283 |
179 | P>L | No |
ClinGen TOPMed |
|
|
rs976382292 CA244409242 |
179 | P>S | No |
ClinGen TOPMed |
|
|
rs371118243 CA6826853 |
181 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386558269 rs1337967392 |
181 | Y>H | No |
ClinGen gnomAD |
|
|
CA6826852 rs777216937 |
182 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165560767 CA386558191 |
187 | N>D | No |
ClinGen gnomAD |
|
|
CA386558185 rs1405957960 |
187 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6826849 rs61748078 |
188 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774459577 CA244409168 |
189 | P>L | No |
ClinGen Ensembl |
|
|
CA6826848 rs770549377 |
191 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1482136995 CA386558126 |
192 | G>S | No |
ClinGen TOPMed |
|
|
CA386558090 rs1252325169 |
194 | A>V | No |
ClinGen gnomAD |
|
|
rs1181140237 CA386558084 |
195 | G>R | No |
ClinGen gnomAD |
|
|
CA386558061 rs1481882940 |
196 | P>L | No |
ClinGen gnomAD |
|
|
rs373413751 CA6826847 |
198 | T>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs781198265 CA6826843 CA6826844 |
200 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA244409162 rs756000211 |
200 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826845 rs756000211 |
200 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826841 rs751504618 |
201 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754940370 CA6826842 |
201 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs537028610 CA244409144 |
202 | P>A | No |
ClinGen 1000Genomes gnomAD |
|
|
COSM1135320 rs766497021 CA6826840 COSM1135319 |
202 | P>L | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs750675975 COSM935898 CA6826838 COSM1586241 |
204 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6826839 rs758443158 |
204 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA386557940 rs1420597087 |
207 | G>D | No |
ClinGen gnomAD |
|
|
CA6826835 rs550755068 |
208 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6826836 rs762252075 |
208 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs71534293 CA244409112 |
209 | G>V | No |
ClinGen Ensembl |
|
|
CA244409111 rs891382407 |
210 | L>P | No |
ClinGen Ensembl |
|
|
rs1471451472 CA386557908 |
211 | E>K | No |
ClinGen gnomAD |
|
|
CA386557892 rs1431155074 |
212 | D>H | No |
ClinGen gnomAD |
|
|
rs1487944093 CA386557876 |
213 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs771986521 CA6826832 |
214 | R>Q | Variant assessed as Somatic; 4.848e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6826833 rs761141445 |
214 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269244075 CA386557849 |
215 | P>L | No |
ClinGen gnomAD |
|
|
CA6826831 rs770602443 |
216 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA386557838 rs770602443 |
216 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1566384206 CA386557798 |
219 | S>N | No |
ClinGen Ensembl |
|
|
rs773017333 CA6826829 |
225 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386557698 rs1273178394 |
226 | S>I | No |
ClinGen gnomAD |
|
|
rs1432908206 CA386557695 |
226 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386557700 rs1273178394 |
226 | S>T | No |
ClinGen gnomAD |
|
|
CA6826827 rs747836237 |
228 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386557638 rs1455567829 |
231 | P>S | No |
ClinGen gnomAD |
|
|
rs370265197 CA386557626 |
232 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6826825 rs370265197 |
232 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386557514 rs761067124 |
233 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs761067124 CA6826815 |
233 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1207625230 CA386557517 |
233 | P>T | No |
ClinGen gnomAD |
|
|
rs375590100 CA244407674 |
234 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375590100 CA6826814 |
234 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386557507 rs1226194091 |
235 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6826813 rs373515247 |
240 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395367417 CA386557465 |
240 | G>D | No |
ClinGen gnomAD |
|
|
CA6826811 rs772927502 |
241 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410087104 CA386557452 |
241 | E>V | No |
ClinGen gnomAD |
|
|
rs769337434 CA244407658 CA6826810 |
242 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6826809 rs761423399 |
244 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6826808 rs187461916 |
245 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187461916 CA244407651 |
245 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386557372 rs1166186716 |
247 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1586242 COSM935897 CA6826807 rs201921559 |
247 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA386557364 rs1364489163 |
248 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs564753984 CA6826805 |
249 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386557352 rs1184740170 |
249 | T>P | No |
ClinGen gnomAD |
|
|
rs564753984 CA6826804 |
249 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393064853 CA386557338 |
250 | S>A | No |
ClinGen TOPMed |
|
|
CA386557300 rs1307871004 |
253 | Q>E | No |
ClinGen TOPMed |
|
|
rs1489538055 CA386557294 |
253 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757335775 CA6826801 |
256 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754044109 CA6826800 |
256 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386557258 rs757335775 |
256 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386557249 rs1290008793 |
257 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1228720375 CA386557238 |
257 | I>M | No |
ClinGen gnomAD |
|
|
rs1290008793 CA386557247 |
257 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778013682 CA6826799 |
258 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866257402 CA244407596 |
259 | A>S | No |
ClinGen Ensembl |
|
|
rs1388140305 CA386557211 |
260 | S>F | No |
ClinGen gnomAD |
|
|
CA386557184 rs1390893081 |
262 | A>V | No |
ClinGen gnomAD |
|
|
CA386557174 rs1292408605 |
263 | T>S | No |
ClinGen gnomAD |
|
|
CA6826797 rs753048962 |
265 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs753048962 CA386557156 |
265 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767994087 CA6826796 |
265 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA386557135 rs1161827170 |
267 | D>N | No |
ClinGen gnomAD |
|
|
rs1411670320 CA386557119 |
268 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6826794 rs752094289 |
272 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1269869205 CA386557022 |
275 | D>V | No |
ClinGen gnomAD |
|
|
CA386557027 rs1487472575 |
275 | D>Y | No |
ClinGen gnomAD |
|
|
rs776171785 CA6826791 |
277 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386556358 rs1594348876 |
278 | I>V | No |
ClinGen Ensembl |
|
|
CA386556342 rs1170333049 |
280 | G>D | No |
ClinGen gnomAD |
|
|
rs201566328 CA6826464 |
280 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386556334 rs966996554 |
282 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA244405135 rs966996554 |
282 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6826462 rs755244333 |
285 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826459 rs763328733 |
286 | D>E | No |
ClinGen ExAC |
|
|
CA6826460 rs766685763 |
286 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386556284 rs145695479 |
289 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6826457 rs145695479 |
289 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6826458 rs750911927 |
289 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386556269 rs1312328085 |
291 | W>* | No |
ClinGen TOPMed |
|
|
CA386556264 rs775200782 |
292 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762408891 CA386556265 |
292 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762408891 CA6826455 |
292 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775200782 CA6826454 |
292 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386556261 rs1594348287 |
293 | A>S | No |
ClinGen Ensembl |
|
|
CA6826449 rs770650321 |
294 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA386556245 rs777575085 |
295 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs777575085 CA6826446 |
295 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1378229607 CA386556246 |
295 | W>L | No |
ClinGen gnomAD |
|
|
CA6826444 rs755011394 |
297 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755011394 CA6826442 |
297 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755011394 CA6826443 |
297 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143608979 CA6826445 |
297 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386556230 rs751803102 |
298 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780265787 CA6826440 |
299 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386556224 rs1419614566 |
299 | G>V | No |
ClinGen gnomAD |
|
|
rs370445420 CA6826438 |
300 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253343205 CA386556216 |
301 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs765509262 CA6826437 |
301 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79997557 CA244405085 |
302 | S>G | No |
ClinGen Ensembl |
|
|
rs1048378223 CA244405082 |
302 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1566359593 CA386556209 |
302 | S>R | No |
ClinGen Ensembl |
|
|
CA386556195 rs1351983739 |
304 | P>L | No |
ClinGen TOPMed |
|
|
rs200541165 CA6826430 |
305 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6826429 rs773888954 |
306 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386556183 rs1373675688 |
307 | Q>E | No |
ClinGen gnomAD |
|
|
rs1272131404 CA386556179 |
307 | Q>R | No |
ClinGen TOPMed |
|
|
rs765989837 CA6826428 |
308 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6826426 rs773116245 |
309 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244405069 rs773116245 |
309 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200855138 CA6826427 |
309 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290852680 CA386556158 |
311 | G>R | No |
ClinGen gnomAD |
|
|
rs1389396580 CA386555824 |
313 | M>I | No |
ClinGen gnomAD |
|
|
rs761969352 CA244404951 |
313 | M>T | No |
ClinGen Ensembl |
|
|
rs1160893846 CA386555810 |
315 | Q>L | No |
ClinGen gnomAD |
|
|
CA6826387 rs764803514 |
316 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA244404945 rs867095218 |
318 | T>I | No |
ClinGen Ensembl |
|
|
CA386555789 rs1439519771 |
319 | G>W | No |
ClinGen gnomAD |
|
|
CA244404941 rs775156300 |
320 | S>I | No |
ClinGen gnomAD |
|
|
rs775156300 CA244404943 |
320 | S>N | No |
ClinGen gnomAD |
|
|
rs761454485 CA386555763 |
323 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1594343792 CA386555760 |
323 | P>H | No |
ClinGen Ensembl |
|
|
rs761454485 CA6826386 |
323 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA244404934 rs1000080809 |
324 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1000080809 CA386555757 |
324 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386555747 rs1355942918 |
326 | G>R | No |
ClinGen gnomAD |
|
|
CA6826383 rs760709890 |
328 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 328 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386555729 rs1594343555 |
329 | K>E | No |
ClinGen Ensembl |
|
|
CA386555721 rs1406821318 |
330 | P>A | No |
ClinGen TOPMed |
|
|
CA6826380 rs192670913 |
331 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771346251 CA6826378 |
332 | S>C | No |
ClinGen ExAC |
|
| TCGA novel | 333 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360583020 CA386555684 |
335 | D>E | No |
ClinGen gnomAD |
|
|
rs1594343380 CA386555690 |
335 | D>N | No |
ClinGen Ensembl |
|
|
CA386555682 rs1159806012 |
336 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 336 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778329311 CA386555635 |
342 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770020554 CA6826375 |
343 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1014732827 CA244404899 |
350 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 350 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6826372 rs757931149 |
351 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386555574 rs1489325645 |
352 | T>I | No |
ClinGen gnomAD |
|
|
rs749967907 CA6826371 |
353 | V>F | No |
ClinGen ExAC |
|
|
CA6826369 rs548031679 |
354 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1280637394 CA386555566 |
354 | A>V | No |
ClinGen gnomAD |
|
|
CA244404888 rs764464039 |
355 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 356 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343996897 CA386555550 |
357 | V>I | No |
ClinGen gnomAD |
|
|
CA386555543 rs1290429496 |
358 | C>R | No |
ClinGen TOPMed |
|
|
CA6826367 rs763910021 CA386555536 |
359 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386555526 rs1432389203 |
360 | A>V | No |
ClinGen gnomAD |
|
|
rs201427575 CA6826366 |
362 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386555501 rs1399944001 |
364 | P>A | No |
ClinGen gnomAD |
|
|
CA386555494 rs1398173316 |
365 | I>F | No |
ClinGen gnomAD |
|
|
rs767287341 CA6826364 |
366 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759509910 CA6826363 |
366 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1424873621 CA386555481 |
367 | G>E | No |
ClinGen gnomAD |
|
|
rs1466368390 CA386555485 |
367 | G>R | No |
ClinGen gnomAD |
|
|
rs1165496908 CA386555456 |
369 | V>A | No |
ClinGen gnomAD |
|
|
rs747548882 CA6826335 |
369 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA386555448 rs1594340961 |
371 | T>P | No |
ClinGen Ensembl |
|
|
CA6826333 rs770437521 |
372 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748726664 CA6826332 |
373 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs777329040 CA6826331 |
375 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs755776323 CA6826330 |
376 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386555390 rs1427961811 |
379 | P>L | No |
ClinGen TOPMed |
|
|
rs780888877 CA6826328 |
379 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244404805 rs983267360 |
380 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs983267360 CA386555389 |
380 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386555373 rs1290283364 |
382 | F>L | No |
ClinGen gnomAD |
|
|
CA6826325 rs766354430 |
383 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746283612 CA386555353 |
385 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs746283612 CA244404794 |
385 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1037299500 CA386555348 |
386 | H>N | No |
ClinGen TOPMed |
|
|
rs1037299500 CA244404791 |
386 | H>Y | No |
ClinGen TOPMed |
|
|
rs201240802 CA6826322 |
390 | E>* | No |
ClinGen 1000Genomes ExAC |
|
|
CA6826321 rs201730545 |
390 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs764392035 CA244404779 |
391 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776875338 CA6826320 |
391 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826318 rs371082879 CA386555305 |
392 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379468992 CA386555298 |
393 | S>F | No |
ClinGen gnomAD |
|
|
CA6826316 rs111674215 |
394 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775978522 CA6826317 |
394 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244404772 rs746357371 |
397 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386555268 rs1190251024 |
398 | E>Q | No |
ClinGen gnomAD |
|
|
CA244404755 rs868060425 |
399 | R>Q | No |
ClinGen gnomAD |
|
|
rs1008217361 CA244404758 |
399 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA244404748 rs937387797 |
400 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 400 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386555255 rs937387797 |
400 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs61748077 CA244404745 |
403 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772646199 CA6826314 |
404 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA386555219 rs1414951337 |
405 | C>* | No |
ClinGen gnomAD |
|
|
rs1237418699 CA386555217 |
406 | E>Q | No |
ClinGen gnomAD |
|
|
rs1314275560 CA386555188 |
409 | Y>* | No |
ClinGen gnomAD |
|
|
CA244404740 rs865912386 |
409 | Y>H | No |
ClinGen Ensembl |
|
|
CA386555178 rs1158375731 |
411 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6826313 rs374570265 |
411 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386555169 rs1566354256 |
412 | L>F | No |
ClinGen Ensembl |
|
|
COSM691797 COSM1146933 CA6826310 rs768578167 |
413 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs779982311 CA6826308 |
415 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536359448 CA6826309 |
415 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1010415239 CA244404733 |
416 | R>C | No |
ClinGen TOPMed |
|
|
CA386555146 rs1156710664 |
416 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs778894583 CA6826305 |
418 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA386555119 rs1480668790 |
420 | C>R | No |
ClinGen gnomAD |
|
|
rs146100624 CA6826303 |
422 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1002217163 CA244404705 |
424 | I>L | No |
ClinGen TOPMed |
|
|
CA386555084 rs1487675290 |
425 | L>P | No |
ClinGen gnomAD |
|
|
CA6826300 rs753113994 |
426 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA386555056 rs1246912820 |
427 | K>N | No |
ClinGen gnomAD |
|
|
rs1220191833 CA386555053 |
428 | V>M | No |
ClinGen TOPMed |
|
|
CA6826283 rs777813484 |
429 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244404517 rs933352126 |
433 | D>N | No |
ClinGen Ensembl |
|
|
CA6826282 rs756374374 |
434 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA244404515 rs923183684 |
434 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1402174088 CA386555012 |
435 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1464744422 CA386555007 |
436 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 437 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199783499 CA386554987 |
439 | E>K | No |
ClinGen TOPMed |
|
|
CA386554975 rs1410732343 |
440 | H>R | No |
ClinGen TOPMed |
|
|
CA386554965 rs1164430894 |
441 | F>L | No |
ClinGen gnomAD |
|
|
rs1594333626 CA386554962 |
442 | F>L | No |
ClinGen Ensembl |
|
|
CA386554939 rs1471517254 |
445 | Q>* | No |
ClinGen TOPMed |
|
|
CA6826281 rs540608652 |
445 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759893884 CA6826279 |
448 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6826280 rs200974822 |
448 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1412374170 CA386554912 |
449 | F>S | No |
ClinGen Ensembl |
|
|
rs1459440165 CA386554914 |
449 | F>V | No |
ClinGen Ensembl |
|
|
CA244404494 rs964600835 |
453 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs964600835 CA244404492 |
453 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1566350387 CA386554859 |
455 | F>L | No |
ClinGen Ensembl |
|
|
rs1594330574 CA386554863 |
455 | F>V | No |
ClinGen Ensembl |
|
|
CA386554851 rs769875396 |
456 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184303017 CA386554853 |
456 | H>R | No |
ClinGen TOPMed |
|
|
CA386554855 rs1445094721 |
456 | H>Y | No |
ClinGen TOPMed |
|
|
CA6826247 rs748158341 |
457 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386554832 rs1340576387 |
459 | D>N | No |
ClinGen gnomAD |
|
|
rs780500739 CA6826243 |
460 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826244 rs536085103 |
460 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1397457592 CA386554799 |
464 | C>R | No |
ClinGen TOPMed |
|
|
rs200828118 CA6826241 |
465 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM935895 COSM1586243 rs372866217 CA6826240 |
465 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372866217 CA6826239 |
465 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368562038 CA6826237 |
469 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759270858 CA6826236 |
470 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1260925000 CA386554748 |
471 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766217902 CA244404373 |
473 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6826234 rs766217902 |
473 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA244404371 rs992946132 |
474 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs918990904 CA244404368 |
477 | G>C | No |
ClinGen Ensembl |
|
|
rs200029735 CA6826233 |
477 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386554701 rs1159136053 |
478 | G>A | No |
ClinGen Ensembl |
|
|
CA386554704 rs1461592816 |
478 | G>S | No |
ClinGen TOPMed |
|
|
rs761716771 CA6826230 |
480 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA386554691 rs761716771 |
480 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs991871775 CA244404351 |
480 | A>V | No |
ClinGen TOPMed |
|
|
rs1033318431 CA244404345 |
481 | R>Q | No |
ClinGen gnomAD |
|
|
rs768579833 CA6826228 |
481 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386554667 rs1477785542 |
484 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 485 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980452538 CA244404343 |
487 | Y>C | No |
ClinGen TOPMed |
|
|
rs1299129107 CA386554641 |
488 | I>F | No |
ClinGen gnomAD |
|
|
rs1408269778 CA386554628 |
490 | A>S | No |
ClinGen gnomAD |
|
|
rs747281175 CA6826227 |
491 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201447644 CA6826226 |
493 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1594329372 CA386554606 |
494 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 495 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746305269 CA6826224 |
495 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA386554550 rs1250403201 |
501 | V>G | No |
ClinGen gnomAD |
|
|
rs375365730 CA6826221 |
503 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6826222 rs757883258 |
503 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764009263 CA6826190 |
507 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280045357 CA386594358 |
508 | P>L | No |
ClinGen gnomAD |
|
|
rs767668945 CA6826187 |
510 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA386594343 rs149061964 |
510 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149061964 CA6826188 |
510 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386594321 rs1406406669 |
512 | G>S | No |
ClinGen gnomAD |
|
|
rs1454900219 CA386594289 |
515 | F>L | No |
ClinGen TOPMed |
|
|
rs1479181317 CA386594278 |
516 | E>K | No |
ClinGen gnomAD |
|
|
rs370330317 CA6826181 |
518 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386594240 rs1203825495 |
519 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 522 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386594172 rs1594317935 |
525 | V>G | No |
ClinGen Ensembl |
|
|
rs1390588977 CA386594177 |
525 | V>M | No |
ClinGen TOPMed |
|
|
rs1594317912 CA386594165 |
526 | H>Y | No |
ClinGen Ensembl |
|
|
CA6826178 rs757856206 |
528 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6826175 rs372926551 |
530 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778472900 CA6826176 |
530 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA386594113 rs1325851694 |
531 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs753638480 CA6826174 |
531 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826172 rs756042276 |
532 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335706570 CA386594093 |
533 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1335706570 CA386594095 |
533 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6826169 rs759628249 |
536 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375203860 CA6826168 |
539 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6826167 rs373037203 |
540 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191637511 CA386594014 |
541 | P>L | No |
ClinGen gnomAD |
|
|
CA386594001 rs1594317459 |
543 | T>P | No |
ClinGen Ensembl |
|
|
rs748626550 CA386593989 |
544 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748626550 CA6826163 |
544 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777066049 CA6826162 |
545 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6826161 rs771577849 |
545 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1594317328 CA386593950 |
548 | T>P | No |
ClinGen Ensembl |
|
|
CA6826159 rs778384980 |
549 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386593924 rs1338797375 |
550 | M>I | No |
ClinGen gnomAD |
|
|
rs969145433 CA244457355 |
550 | M>V | No |
ClinGen TOPMed |
|
|
CA386593901 rs1249566328 |
552 | K>N | No |
ClinGen gnomAD |
|
|
rs1450172131 CA386593844 |
557 | E>G | No |
ClinGen gnomAD |
|
|
rs777456558 CA6826156 |
557 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1317437303 CA386593823 |
559 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 560 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386593750 rs1329082751 |
566 | K>E | No |
ClinGen gnomAD |
|
|
rs1390366271 CA386593742 |
567 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 567 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6826154 rs752693252 |
571 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1427040127 CA386593685 |
574 | K>E | No |
ClinGen gnomAD |
|
|
rs1427040127 CA386593686 |
574 | K>Q | No |
ClinGen gnomAD |
|
|
rs754961054 CA386593639 CA386593638 |
577 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751747291 CA6826151 |
578 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs751747291 CA386593634 |
578 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6826150 rs546807052 |
580 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1254044858 CA608058453 |
581 | Y>* | No |
ClinGen gnomAD |
|
|
CA244457291 rs186499466 |
581 | Y>C | No |
ClinGen 1000Genomes |
|
|
CA244457285 rs186499466 |
581 | Y>F | No |
ClinGen 1000Genomes |
|
|
CA244457272 rs991922160 |
582 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA244457270 rs942400610 |
584 | N>D | No |
ClinGen Ensembl |
|
|
rs1183499873 CA386593532 |
587 | L>F | No |
ClinGen gnomAD |
No associated diseases with P49023
7 regional properties for P49023
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, LIM-type | 356 - 415 | IPR001781-1 |
| domain | Zinc finger, LIM-type | 416 - 473 | IPR001781-2 |
| domain | Zinc finger, LIM-type | 474 - 533 | IPR001781-3 |
| domain | Zinc finger, LIM-type | 534 - 591 | IPR001781-4 |
| domain | Paxillin, Lim domain 4 | 535 - 586 | IPR001904 |
| domain | Paxillin, Lim domain 2 | 417 - 468 | IPR047072 |
| domain | Paxillin/TGFB1I1, LIM domain 1 | 358 - 410 | IPR047075 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| microtubule associated complex | Any multimeric complex connected to a microtubule. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| beta-catenin binding | Binding to a catenin beta subunit. |
| metal ion binding | Binding to a metal ion. |
| neuropilin binding | Binding to a member of the neuropilin family. |
| protein phosphatase binding | Binding to a protein phosphatase. |
| transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| vinculin binding | Binding to vinculin, a protein found in muscle, fibroblasts, and epithelial cells that binds actin and appears to mediate attachment of actin filaments to integral proteins of the plasma membrane. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| cellular response to reactive oxygen species | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals. |
| endothelial cell migration | The orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
| growth hormone receptor signaling pathway | The series of molecular signals generated as a consequence of growth hormone receptor binding to its physiological ligand. |
| positive regulation of stress fiber assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| signal complex assembly | The aggregation, arrangement and bonding together of a set of components to form a complex capable of relaying a signal within a cell. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| substrate adhesion-dependent cell spreading | The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate. |
| transforming growth factor beta receptor signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SYZ8 | PDLIM3 | PDZ and LIM domain protein 3 | Bos taurus (Bovine) | PR |
| Q9PU47 | PDLIM3 | PDZ and LIM domain protein 3 | Gallus gallus (Chicken) | PR |
| P49024 | PXN | Paxillin | Gallus gallus (Chicken) | PR |
| Q53GG5 | PDLIM3 | PDZ and LIM domain protein 3 | Homo sapiens (Human) | PR |
| O43294 | TGFB1I1 | Transforming growth factor beta-1-induced transcript 1 protein | Homo sapiens (Human) | PR |
| O70209 | Pdlim3 | PDZ and LIM domain protein 3 | Mus musculus (Mouse) | PR |
| Q62219 | Tgfb1i1 | Transforming growth factor beta-1-induced transcript 1 protein | Mus musculus (Mouse) | PR |
| Q8VI36 | Pxn | Paxillin | Mus musculus (Mouse) | PR |
| Q6QGC0 | PDLIM3 | PDZ and LIM domain protein 3 | Sus scrofa (Pig) | PR |
| Q66H76 | Pxn | Paxillin | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDDLDALLAD | LESTTSHISK | RPVFLSEETP | YSYPTGNHTY | QEIAVPPPVP | PPPSSEALNG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TILDPLDQWQ | PSSSRFIHQQ | PQSSSPVYGS | SAKTSSVSNP | QDSVGSPCSR | VGEEEHVYSF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PNKQKSAEPS | PTVMSTSLGS | NLSELDRLLL | ELNAVQHNPP | GFPADEANSS | PPLPGALSPL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YGVPETNSPL | GGKAGPLTKE | KPKRNGGRGL | EDVRPSVESL | LDELESSVPS | PVPAITVNQG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EMSSPQRVTS | TQQQTRISAS | SATRELDELM | ASLSDFKIQG | LEQRADGERC | WAAGWPRDGG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RSSPGGQDEG | GFMAQGKTGS | SSPPGGPPKP | GSQLDSMLGS | LQSDLNKLGV | ATVAKGVCGA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CKKPIAGQVV | TAMGKTWHPE | HFVCTHCQEE | IGSRNFFERD | GQPYCEKDYH | NLFSPRCYYC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NGPILDKVVT | ALDRTWHPEH | FFCAQCGAFF | GPEGFHEKDG | KAYCRKDYFD | MFAPKCGGCA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RAILENYISA | LNTLWHPECF | VCRECFTPFV | NGSFFEHDGQ | PYCEVHYHER | RGSLCSGCQK |
| 550 | 560 | 570 | 580 | 590 | |
| PITGRCITAM | AKKFHPEHFV | CAFCLKQLNK | GTFKEQNDKP | YCQNCFLKLF | C |