Q70Z53
Gene name |
FRA10AC1 (C10orf4, PRO2972) |
Protein name |
Protein FRA10AC1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:118924 |
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 Q70Z53
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q70Z53-F1 | Predicted | AlphaFoldDB |
255 variants for Q70Z53
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_087878 | 110 | R>del | NEDGFC [UniProt] | Yes | UniProt |
| VAR_087879 | 161 | R>del | NEDGFC [UniProt] | Yes | UniProt |
| VAR_087880 | 165 | E>del | NEDGFC; unknown pathological significance; decreased protein abundance; no effect on protein localization [UniProt] | Yes | UniProt |
|
CA5610967 rs780617472 |
2 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148753292 CA5610966 |
2 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780617472 CA377614908 |
2 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5610965 rs750806040 |
3 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA377614801 rs1181085479 |
5 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA377614797 rs1181085479 |
5 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377614790 rs1440646764 |
6 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA377614761 rs1252809933 |
7 | Y>C | No |
ClinGen gnomAD |
|
|
CA211557422 rs780614089 |
8 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377614680 rs1413102993 |
11 | F>V | No |
ClinGen gnomAD |
|
|
CA5610964 rs112324577 |
12 | S>C | No |
ClinGen ExAC |
|
|
rs112324577 CA211557418 |
12 | S>G | No |
ClinGen ExAC |
|
|
CA377614663 rs755801351 |
12 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5610963 rs755801351 |
12 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5610962 rs370730202 |
13 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377614652 rs1204564498 |
13 | D>Y | No |
ClinGen gnomAD |
|
|
CA377614637 rs1253279086 |
14 | D>G | No |
ClinGen TOPMed |
|
|
CA377614617 rs1283740039 |
16 | R>C | No |
ClinGen gnomAD |
|
|
rs726817 VAR_023237 CA5610961 |
16 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs764976937 | 17 | C>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354110221 CA377614595 |
19 | E>* | No |
ClinGen gnomAD |
|
|
CA377614593 rs1354110221 |
19 | E>K | No |
ClinGen gnomAD |
|
|
CA5610958 rs751094541 |
20 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs751094541 CA5610959 |
20 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5610957 rs766322360 |
21 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762922773 CA5610956 |
21 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA377614566 rs766322360 |
21 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048572154 CA211557374 |
22 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 22 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207803193 CA377614538 |
23 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 23 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377614515 rs1420909931 |
25 | K>E | No |
ClinGen gnomAD |
|
|
CA377614500 rs1188233824 |
26 | R>G | No |
ClinGen TOPMed |
|
| rs755202796 | 26 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377614496 rs1564823640 |
26 | R>K | No |
ClinGen Ensembl |
|
|
rs146587772 CA5610938 |
26 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs567324774 CA5610937 |
27 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377614368 rs1426375070 |
27 | T>I | No |
ClinGen gnomAD |
|
|
rs1488177093 CA377614341 |
31 | D>G | No |
ClinGen TOPMed |
|
|
CA377614337 rs1477001026 |
32 | L>I | No |
ClinGen gnomAD |
|
|
rs146017777 CA5610935 |
32 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1474923800 CA377614288 |
36 | K>N | No |
ClinGen gnomAD |
|
|
CA377614261 rs1262093839 |
38 | F>L | No |
ClinGen TOPMed |
|
|
rs758291299 CA5610933 |
38 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs528385550 CA5610932 |
39 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377614253 rs1475338275 |
39 | Q>R | No |
ClinGen TOPMed |
|
|
rs1166386016 CA377614226 |
41 | E>G | No |
ClinGen TOPMed |
|
|
rs1045147141 CA377614196 |
43 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1045147141 CA211555832 |
43 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs905733675 CA211555849 |
43 | H>Y | No |
ClinGen Ensembl |
|
|
rs565869916 CA211555826 |
44 | G>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA211555825 rs1053397215 |
44 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs565869916 CA5610931 |
44 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377614151 rs1279705261 |
45 | K>N | No |
ClinGen gnomAD |
|
|
CA211555819 rs112607551 |
46 | V>A | No |
ClinGen Ensembl |
|
|
rs1002668425 CA211555822 |
46 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377614140 rs1002668425 |
46 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1282924209 CA377612748 |
50 | Q>* | No |
ClinGen gnomAD |
|
|
CA377612683 rs1486774113 |
58 | R>G | No |
ClinGen gnomAD |
|
|
CA5610929 rs761599921 |
58 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5610913 rs765156157 |
58 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1392090505 CA377612631 |
59 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 59 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377612558 rs1374673723 |
65 | R>S | No |
ClinGen TOPMed |
|
|
rs763835906 CA5610910 |
67 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1201946828 CA377612540 |
68 | L>F | No |
ClinGen Ensembl |
|
|
CA377612532 rs1240099114 |
69 | I>T | No |
ClinGen TOPMed |
|
|
rs1178863615 CA377612527 |
70 | A>D | No |
ClinGen gnomAD |
|
|
rs760914941 CA5610909 |
70 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764023586 CA211555666 |
71 | M>T | No |
ClinGen gnomAD |
|
|
CA5610908 rs752889902 |
71 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377612513 rs1223037130 |
72 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA377612505 rs1253939433 |
73 | A>T | No |
ClinGen TOPMed |
|
|
CA377612497 rs1321824334 |
73 | A>V | No |
ClinGen gnomAD |
|
|
rs1276451237 CA377635103 |
74 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1276451237 CA377635102 |
74 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1401935041 CA377635081 |
77 | H>R | No |
ClinGen gnomAD |
|
|
CA5610888 rs137880326 |
78 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2275438 VAR_023238 CA5610887 |
78 | T>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5610885 rs766594449 |
80 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs766594449 CA5610884 |
80 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA5610881 rs146931399 |
81 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5610882 rs146931399 |
81 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377635048 rs1422269388 |
82 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs148823401 CA5610880 |
83 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771692369 CA5610878 COSM686059 |
84 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs377557297 CA5610876 |
87 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5610875 rs770374356 |
88 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377635001 rs1205987621 |
89 | G>A | No |
ClinGen gnomAD |
|
|
CA377634999 rs1205987621 |
89 | G>D | No |
ClinGen gnomAD |
|
|
CA377634991 rs1481931805 |
91 | K>E | No |
ClinGen TOPMed |
|
|
CA5610873 rs540524259 |
91 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs946059597 CA377634971 |
93 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 93 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341230462 CA377634956 |
95 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5610871 rs201459566 |
95 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5610870 rs376358924 |
96 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5610869 rs781170792 |
97 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373087843 CA5610868 |
97 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1589727728 CA377634933 |
99 | G>E | No |
ClinGen Ensembl |
|
|
CA5610849 rs148213269 |
100 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544149412 CA5610848 |
100 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1236774698 CA377634907 |
101 | N>S | No |
ClinGen gnomAD |
|
|
CA5610847 rs376929060 |
102 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180739662 CA377634899 |
102 | D>G | No |
ClinGen gnomAD |
|
|
CA5610845 rs374011831 |
103 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396681543 CA377634887 |
104 | T>S | No |
ClinGen gnomAD |
|
|
rs770776708 CA5610844 |
107 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377634864 rs770776708 |
107 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575052590 CA5610843 |
108 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs941295037 CA211575606 |
109 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5610842 rs555127846 |
110 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA211575605 rs980868001 |
110 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA377634838 rs1280507005 |
112 | N>D | No |
ClinGen TOPMed |
|
|
rs764388352 CA5610841 |
113 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA377634830 rs1486369232 |
113 | H>R | No |
ClinGen TOPMed |
|
|
rs764388352 CA211575599 |
113 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1335915238 CA377634818 |
115 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377634809 rs1208029670 |
116 | L>V | No |
ClinGen TOPMed |
|
|
CA5610840 rs761034126 |
118 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA377634775 rs1236859861 |
120 | E>D | No |
ClinGen TOPMed |
|
|
rs775993516 CA5610839 |
121 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765938342 CA5610838 |
122 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419692241 CA377634758 |
123 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377634735 rs762703626 CA5610837 |
125 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA377634740 rs1378840768 |
125 | M>V | No |
ClinGen gnomAD |
|
|
CA5610836 rs772552456 CA377634728 |
127 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1308818474 CA377634690 |
130 | R>K | No |
ClinGen TOPMed |
|
|
rs1192957627 CA377634674 |
132 | A>D | No |
ClinGen gnomAD |
|
|
rs947403729 CA211575334 |
135 | Y>C | No |
ClinGen TOPMed |
|
|
CA211575324 rs556506794 |
138 | K>E | No |
ClinGen Ensembl |
|
|
rs1236623178 CA377634626 |
139 | L>V | No |
ClinGen TOPMed |
|
|
rs376592865 CA5610815 |
143 | Y>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5610814 rs760707865 |
144 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA377634581 rs1447329236 |
145 | I>V | No |
ClinGen gnomAD |
|
|
rs372025705 CA5610813 |
147 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771926105 CA377634561 |
148 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5610812 rs771926105 |
148 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5610810 rs779202692 |
151 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746020734 CA5610811 |
151 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1217441395 CA377634515 |
154 | N>S | No |
ClinGen gnomAD |
|
|
CA211573027 rs762272439 |
156 | F>Y | No |
ClinGen Ensembl |
|
|
CA5610788 rs749540270 |
160 | W>* | No |
ClinGen ExAC gnomAD |
|
|
COSM921621 rs199549545 CA5610787 |
161 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM921619 CA5610786 rs769873184 |
161 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5610785 rs748532955 |
162 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781719546 CA5610784 |
164 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs747377283 CA5610781 |
165 | E>D | No |
ClinGen ExAC |
|
|
CA5610780 rs200756785 |
166 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756931045 CA5610778 |
169 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs151040677 CA5610777 |
170 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763642429 CA5610776 |
171 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377634358 rs1305612681 |
175 | C>R | No |
ClinGen TOPMed |
|
|
rs374981748 CA5610752 |
181 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA211571979 rs982919249 |
184 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 184 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194330815 CA377634267 |
187 | K>R | No |
ClinGen TOPMed |
|
|
CA5610749 CA377634257 rs762729942 |
188 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211571938 rs1026729291 |
193 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs773047436 CA5610748 |
195 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261740768 CA377634204 |
196 | I>V | No |
ClinGen gnomAD |
|
|
CA5610747 rs765474094 |
198 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149181398 COSM921609 CA211571937 |
198 | H>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
rs761981204 CA5610746 |
199 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA211571925 rs546505041 |
200 | E>K | No |
ClinGen Ensembl |
|
|
rs776731975 COSM1638692 CA5610745 |
201 | K>N | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5610744 rs768641121 |
203 | N>Y | No |
ClinGen ExAC gnomAD |
|
| rs750462341 | 207 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747462128 CA5610743 |
207 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA5610720 rs147730663 |
213 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 213 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760164099 CA5610719 |
216 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1476257929 CA377634050 |
217 | K>E | No |
ClinGen TOPMed |
|
|
CA377634032 rs1463100071 |
219 | N>S | No |
ClinGen gnomAD |
|
|
CA377634025 rs1374090365 |
220 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771208599 CA5610717 |
221 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA377634017 rs771208599 |
221 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5610697 rs545360784 |
227 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377633944 rs1554894627 |
229 | S>* | No |
ClinGen Ensembl |
|
|
CA377633947 rs1216417216 |
229 | S>A | No |
ClinGen Ensembl |
|
|
rs773672925 CA5610696 |
230 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs775948504 | 232 | R>E | Variant assessed as Somatic; 0.0003162 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5610694 rs746694549 |
232 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1196744 CA211569467 rs971699309 |
234 | D>G | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA377633913 rs1318313661 |
234 | D>N | No |
ClinGen TOPMed |
|
|
rs1402555863 CA377633905 |
235 | K>E | No |
ClinGen gnomAD |
|
|
CA377633900 rs1243994568 |
235 | K>N | No |
ClinGen gnomAD |
|
|
rs774931601 CA5610691 |
236 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs771583990 CA5610690 |
237 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5610689 rs745751956 |
238 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA377633879 rs1160507401 |
239 | D>H | No |
ClinGen gnomAD |
|
|
CA5610687 rs375390820 |
240 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5610688 rs375390820 |
240 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282608434 CA377633871 |
240 | C>Y | No |
ClinGen TOPMed |
|
|
CA377633834 rs1196798390 |
245 | H>P | No |
ClinGen gnomAD |
|
|
rs1359027470 CA377633829 |
246 | K>E | No |
ClinGen TOPMed |
|
|
CA377633817 rs1244894190 |
247 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 247 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481473458 CA377633822 |
247 | K>Q | No |
ClinGen gnomAD |
|
|
rs1589718496 CA377633810 |
248 | S>C | No |
ClinGen Ensembl |
|
|
rs11187583 CA5610686 VAR_056872 |
251 | S>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777753842 CA5610685 |
252 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767204685 CA5610684 |
254 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377633767 rs1350850532 |
255 | E>G | No |
ClinGen gnomAD |
|
|
rs1387512731 CA377633759 |
256 | A>D | No |
ClinGen gnomAD |
|
|
rs7914441 CA5610682 |
258 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5610681 rs147872799 |
261 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377633726 rs1221098366 |
261 | D>N | No |
ClinGen gnomAD |
|
|
CA377633312 rs1408313682 |
263 | G>E | No |
ClinGen gnomAD |
|
|
rs1189055688 CA377633711 |
263 | G>R | No |
ClinGen TOPMed |
|
|
rs1408313682 CA377633310 |
263 | G>V | No |
ClinGen gnomAD |
|
|
CA5610656 rs376966901 |
264 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5610657 rs750934916 |
264 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762152272 CA5610655 |
271 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA377633250 rs1276820262 |
272 | D>E | No |
ClinGen TOPMed |
|
|
rs777045735 CA5610654 |
272 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767124356 CA5610653 |
274 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA377633242 rs1243409833 |
274 | L>V | No |
ClinGen gnomAD |
|
|
rs371654560 CA5610652 |
275 | L>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377632710 rs1436016389 |
276 | R>K | No |
ClinGen gnomAD |
|
|
CA377632651 rs1471009276 |
279 | D>A | No |
ClinGen gnomAD |
|
|
CA211562647 rs867326098 |
279 | D>H | No |
ClinGen TOPMed |
|
|
rs1404235439 CA377632616 |
281 | E>G | No |
ClinGen gnomAD |
|
|
CA5610593 rs34803976 |
283 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34803976 CA5610592 |
283 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746108287 CA5610591 |
284 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5610589 rs774371942 |
288 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1589711533 CA377632513 |
289 | L>F | No |
ClinGen Ensembl |
|
|
rs1449629557 CA377632512 |
289 | L>R | No |
ClinGen gnomAD |
|
|
CA5610588 rs770999518 |
290 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA377632502 rs770999518 |
290 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1483504382 CA377632486 |
293 | P>A | No |
ClinGen gnomAD |
|
|
CA211562596 rs916705015 |
295 | P>L | No |
ClinGen TOPMed |
|
|
CA377632468 rs1462306811 |
296 | E>A | No |
ClinGen gnomAD |
|
|
CA377632467 rs1462306811 |
296 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201531590 CA377632433 |
301 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5610585 rs778326425 |
302 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774567501 CA5610566 |
306 | F>L | No |
ClinGen ExAC |
|
|
rs1280172959 CA377632370 |
307 | D>E | No |
ClinGen TOPMed |
|
|
CA377632364 rs1410173678 |
308 | E>D | No |
ClinGen gnomAD |
|
|
rs771197579 CA5610565 |
308 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs374903280 CA5610564 |
311 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380509862 CA377632335 |
312 | D>N | No |
ClinGen gnomAD |
|
|
CA211561806 rs891110649 |
314 | F>C | No |
ClinGen TOPMed |
|
|
rs1302697633 CA377632310 |
316 | L>R | No |
ClinGen gnomAD |
No associated diseases with Q70Z53
No regional properties for Q70Z53
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q70Z53 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatase activity | Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| dephosphorylation | The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHGHGGYDSD | FSDDERCGES | SKRKKRTVED | DLLLQKPFQK | EKHGKVAHKQ | VAAELLDREE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARNRRFHLIA | MDAYQRHTKF | VNDYILYYGG | KKEDFKRLGE | NDKTDLDVIR | ENHRFLWNEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DEMDMTWEKR | LAKKYYDKLF | KEYCIADLSK | YKENKFGFRW | RVEKEVISGK | GQFFCGNKYC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DKKEGLKSWE | VNFGYIEHGE | KRNALVKLRL | CQECSIKLNF | HHRRKEIKSK | KRKDKTKKDC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EESSHKKSRL | SSAEEASKKK | DKGHSSSKKS | EDSLLRNSDE | EESASESELW | KGPLPETDEK |
| 310 | |||||
| SQEEEFDEYF | QDLFL |