Q6P1M9
Gene name |
ARMCX5 |
Protein name |
Armadillo repeat-containing X-linked protein 5 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64860 |
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 Q6P1M9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6P1M9-F1 | Predicted | AlphaFoldDB |
309 variants for Q6P1M9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10475780 rs775783944 |
2 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1215236081 CA414059857 |
2 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 3 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10475781 rs376521671 |
4 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA333914993 rs1056732662 |
5 | G>R | No |
ClinGen TOPMed |
|
|
CA414059918 rs1180485038 |
6 | T>A | No |
ClinGen gnomAD |
|
|
CA414059932 rs1454640404 |
6 | T>I | No |
ClinGen TOPMed |
|
|
CA10475783 rs752178410 |
7 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs147081834 CA10475784 |
9 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1158005053 CA414059976 |
9 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 14 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10475785 rs767819081 |
17 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10475786 rs772283056 |
20 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414060144 rs1199539554 |
22 | I>V | No |
ClinGen TOPMed |
|
|
rs1480031482 CA414060189 |
24 | G>S | No |
ClinGen TOPMed |
|
|
rs1602493664 CA414060274 |
30 | V>M | No |
ClinGen Ensembl |
|
|
CA333914995 rs1017659655 |
36 | A>S | No |
ClinGen Ensembl |
|
|
CA333914997 rs777165273 |
37 | E>D | No |
ClinGen TOPMed |
|
|
CA10475788 rs778633013 |
37 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333914996 rs778633013 |
37 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1486111547 CA414060499 |
42 | A>V | No |
ClinGen TOPMed |
|
|
CA10475789 rs747742515 |
45 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414060633 rs1317140536 |
50 | T>A | No |
ClinGen gnomAD |
|
|
CA10475790 rs757964410 |
50 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 52 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307008813 CA414060738 |
55 | G>C | No |
ClinGen gnomAD |
|
|
CA414060746 rs1318370282 |
55 | G>V | No |
ClinGen gnomAD |
|
|
rs746990723 CA10475792 |
57 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10475793 rs770882008 |
58 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs976516077 CA333914999 |
64 | T>A | No |
ClinGen gnomAD |
|
|
rs1314190529 CA414060909 |
64 | T>R | No |
ClinGen TOPMed |
|
|
CA10475797 rs775908725 |
67 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs763262040 CA10475798 |
71 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1413251452 CA414061055 |
72 | A>P | No |
ClinGen gnomAD |
|
|
rs923526734 CA333915000 |
74 | T>R | No |
ClinGen TOPMed |
|
|
CA10475799 rs764309369 |
75 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs761752157 CA10475801 |
81 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333915001 rs951073931 |
82 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 83 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414061247 rs1287902867 |
83 | T>R | No |
ClinGen TOPMed |
|
|
rs138502487 CA10475802 |
84 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414061283 rs1398036389 |
85 | K>N | No |
ClinGen gnomAD |
|
|
rs1429627218 CA414061304 |
87 | R>G | No |
ClinGen gnomAD |
|
|
rs1298666212 CA414061345 |
89 | M>V | No |
ClinGen gnomAD |
|
|
CA333915002 rs942177128 |
91 | E>D | No |
ClinGen gnomAD |
|
|
CA10475805 rs766719928 |
94 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10475806 rs752417086 |
95 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414061476 rs1427105317 |
96 | P>A | No |
ClinGen TOPMed |
|
|
CA10475807 rs758017459 |
96 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA414061477 rs1427105317 |
96 | P>S | No |
ClinGen TOPMed |
|
|
rs1428870286 CA414061499 |
97 | L>P | No |
ClinGen TOPMed |
|
|
CA10475808 rs777317204 |
98 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs12013441 CA10475809 |
100 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10475810 rs112989637 |
100 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA414061564 rs112989637 |
100 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1569479954 CA414061572 |
101 | S>G | No |
ClinGen Ensembl |
|
|
rs781198467 CA10475811 |
101 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10475812 rs374726828 |
102 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414061617 rs1321585422 |
105 | Q>E | No |
ClinGen TOPMed |
|
|
CA414061616 rs1321585422 |
105 | Q>K | No |
ClinGen TOPMed |
|
| TCGA novel | 107 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA333915003 rs1009936608 |
107 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 108 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749568583 CA10475815 |
108 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10475816 rs769019967 |
109 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10475818 rs761960075 CA10475819 |
111 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10475817 rs760692111 |
111 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1293831831 CA414061751 |
112 | P>A | No |
ClinGen TOPMed |
|
|
CA414061795 rs773828294 |
114 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213364116 CA414061796 |
114 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773828294 CA10475820 |
114 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112318694 CA333915005 |
117 | S>G | No |
ClinGen Ensembl |
|
|
rs41307379 CA333915006 |
119 | V>L | No |
ClinGen Ensembl |
|
|
rs766774856 CA10475822 |
121 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299403011 CA414061944 |
123 | E>G | No |
ClinGen TOPMed |
|
|
CA414061969 rs1345766890 |
125 | K>E | No |
ClinGen gnomAD |
|
|
CA10475823 rs764283175 |
125 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1275903870 CA414061983 |
126 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 132 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759848417 CA10475824 |
134 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10475825 rs763738026 |
135 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751112777 CA10475826 |
135 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000666618 CA333915008 |
137 | Y>F | No |
ClinGen Ensembl |
|
|
CA10475827 CA414062231 rs776569480 |
142 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780559667 CA10475828 |
147 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs750414266 CA10475829 |
150 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA333915009 rs756099007 |
151 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1194546099 CA414062387 |
152 | R>G | No |
ClinGen gnomAD |
|
|
CA414062446 rs1186847886 |
155 | E>* | No |
ClinGen gnomAD |
|
|
rs35450554 CA10475832 |
156 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA333915010 rs997524032 |
157 | S>I | No |
ClinGen gnomAD |
|
|
CA414062478 rs997524032 |
157 | S>N | No |
ClinGen gnomAD |
|
|
CA333915011 rs369047406 |
158 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365727293 CA414062500 |
158 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs369047406 CA10475833 |
158 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA333915012 rs923659718 |
162 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 162 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201641747 CA10475835 |
163 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10475836 rs772263868 |
165 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 166 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10475837 rs773138492 |
167 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 169 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272227101 CA414062766 |
169 | N>T | No |
ClinGen gnomAD |
|
|
CA10475838 rs375887903 |
170 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414062781 rs1315280518 |
170 | I>T | No |
ClinGen TOPMed |
|
|
CA10475839 rs375887903 |
170 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763159758 CA333915013 |
173 | W>R | No |
ClinGen Ensembl |
|
| TCGA novel | 174 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10475840 rs777053533 |
176 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765569290 CA10475842 |
182 | V>A | No |
ClinGen ExAC |
|
|
rs1283860891 CA414063039 |
185 | W>G | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs935033680 CA333915015 |
190 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA414063149 rs1447730376 |
190 | E>K | No |
ClinGen gnomAD |
|
|
CA10475843 rs751288317 |
191 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10475845 rs767103137 |
193 | S>F | No |
ClinGen ExAC |
|
|
CA10475846 rs749922493 |
194 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10475847 rs755643991 |
194 | L>P | No |
ClinGen ExAC |
|
|
rs370774795 CA10475849 |
197 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1385758542 CA414063280 |
197 | Y>H | No |
ClinGen gnomAD |
|
|
rs1426285800 CA414063427 |
205 | E>G | No |
ClinGen TOPMed |
|
|
CA10475851 rs758798400 |
206 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452335292 CA414063508 |
209 | P>H | No |
ClinGen gnomAD |
|
|
rs767302829 CA10475852 |
209 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758529861 CA10475853 |
211 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1400172327 CA414063564 |
212 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10475854 rs778007632 |
213 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1238059817 CA414063588 |
214 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA333915016 rs963511931 |
217 | I>V | No |
ClinGen Ensembl |
|
|
CA10475855 rs747125732 |
218 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414063707 rs1365763904 |
221 | V>G | No |
ClinGen TOPMed |
|
|
rs1328810386 CA414063730 |
222 | I>T | No |
ClinGen gnomAD |
|
|
CA414063738 rs1182601370 |
223 | A>T | No |
ClinGen TOPMed |
|
|
rs770936094 CA10475856 |
225 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333915017 rs980295564 |
226 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 227 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248994212 CA414063822 |
228 | R>G | No |
ClinGen TOPMed |
|
|
CA10475858 rs746367535 |
229 | Y>C | No |
ClinGen ExAC |
|
|
CA414063844 rs1276724162 |
229 | Y>H | No |
ClinGen gnomAD |
|
|
rs373013040 CA10475859 |
230 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 231 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755694549 CA10475860 |
237 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1490662118 CA414063975 |
237 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 238 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10475861 rs763326554 |
238 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10475863 rs772853746 |
239 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10475862 rs767105830 |
239 | E>K | No |
ClinGen ExAC |
|
|
CA10475864 rs139851001 |
243 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs948341958 CA333915018 |
244 | P>L | No |
ClinGen TOPMed |
|
|
CA333915019 rs866578212 |
246 | G>E | No |
ClinGen Ensembl |
|
|
rs1362774825 CA414064120 |
246 | G>R | No |
ClinGen gnomAD |
|
|
rs765976307 CA10475865 |
248 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333915020 rs377411016 |
249 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753895997 CA333915021 |
250 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA10475867 rs754938559 |
251 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA333915022 rs375842205 |
252 | E>K | No |
ClinGen Ensembl |
|
|
CA10475868 rs765132384 |
253 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777867447 CA10475871 |
262 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1056127986 CA333915024 |
262 | R>Q | No |
ClinGen Ensembl |
|
|
rs1444433505 CA414064467 |
266 | K>M | No |
ClinGen gnomAD |
|
|
CA10475873 rs143305512 |
267 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323042694 CA414064531 |
269 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs139067925 CA10475876 |
277 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10475879 rs749617854 |
283 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs749534706 | 283 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769008473 CA10475880 |
285 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414064836 rs1159404940 |
285 | I>V | No |
ClinGen TOPMed |
|
|
CA414064962 rs1266371628 |
291 | Y>C | No |
ClinGen gnomAD |
|
|
CA10475881 rs772797845 |
291 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA414065004 rs1176689378 |
294 | N>D | No |
ClinGen gnomAD |
|
|
CA10475884 rs376270648 |
295 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10475883 rs376270648 |
295 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs887148982 CA333915026 |
295 | P>S | No |
ClinGen TOPMed |
|
|
CA414065093 rs1167891788 |
299 | H>D | No |
ClinGen gnomAD |
|
|
rs765121989 CA10475886 COSM305503 |
299 | H>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1393244084 CA414065152 |
302 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 302 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759494842 CA10475887 |
303 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414065165 rs759494842 |
303 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377359903 CA10475888 |
306 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349534818 CA414065294 |
309 | P>L | No |
ClinGen TOPMed |
|
|
rs1201063133 CA414065286 |
309 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs113918916 CA333915027 |
311 | E>G | No |
ClinGen Ensembl |
|
|
CA414065425 rs1285429216 |
316 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 318 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 319 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224825577 CA414065535 |
321 | L>F | No |
ClinGen TOPMed |
|
|
rs1602495118 CA414065640 |
328 | H>N | No |
ClinGen Ensembl |
|
| TCGA novel | 328 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 329 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 329 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414065716 rs1347211430 |
331 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs370182133 CA10475890 |
333 | M>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA333915028 rs868738831 |
336 | G>D | No |
ClinGen Ensembl |
|
|
rs1019659336 CA333915029 |
337 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 342 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339951743 CA414065961 |
345 | Q>* | No |
ClinGen gnomAD |
|
|
CA414065972 rs1381821045 |
345 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 347 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10475893 rs750531280 |
347 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10475894 rs756152594 |
349 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333915030 rs866416226 |
349 | H>Y | No |
ClinGen Ensembl |
|
|
rs1178601130 CA414066068 |
350 | D>G | No |
ClinGen TOPMed |
|
|
rs1429198188 CA414066136 |
354 | T>I | No |
ClinGen TOPMed |
|
|
rs1199746561 CA414066157 |
355 | V>A | No |
ClinGen gnomAD |
|
|
rs1476582628 CA414066175 |
356 | M>T | No |
ClinGen TOPMed |
|
|
CA333915031 rs1000634112 |
356 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 359 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1038880909 CA333915032 |
360 | L>F | No |
ClinGen Ensembl |
|
|
CA10475896 rs749789460 |
361 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768968357 CA10475897 |
362 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767404642 CA10475898 |
364 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10475899 rs746711877 |
365 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1245831353 CA414067307 |
368 | E>Q | No |
ClinGen TOPMed |
|
|
CA414067339 rs1382487281 |
369 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA414067381 rs1569480308 |
372 | A>D | No |
ClinGen Ensembl |
|
|
CA414067401 rs1162212868 |
374 | S>G | No |
ClinGen gnomAD |
|
|
rs770732927 CA10475900 |
375 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200145435 CA10475902 |
378 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383003699 CA414067521 |
379 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 379 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752535299 CA333915033 |
381 | E>D | No |
ClinGen Ensembl |
|
|
rs762914687 CA10475905 |
384 | E>K | Variant assessed as Somatic; 0.0002501 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763841626 CA10475906 |
386 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761553267 CA10475908 |
387 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1363267282 CA414067697 |
390 | E>* | No |
ClinGen TOPMed |
|
|
rs149355875 CA10475911 |
390 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1363267282 CA414067695 |
390 | E>Q | No |
ClinGen TOPMed |
|
|
CA10475912 rs780177987 |
391 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA414067836 rs1262944287 |
397 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA414067847 rs1602495480 |
397 | C>Y | No |
ClinGen Ensembl |
|
|
CA10475915 rs779517538 |
398 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991863102 CA333915034 |
403 | C>R | No |
ClinGen TOPMed |
|
|
rs1445344175 CA414068076 |
408 | P>T | No |
ClinGen gnomAD |
|
|
CA10475917 rs142617709 |
409 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414068132 rs1387903043 |
411 | L>V | No |
ClinGen TOPMed |
|
|
rs781008940 CA10475919 |
413 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781008940 CA10475918 |
413 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414068306 rs1385448235 |
422 | I>V | No |
ClinGen gnomAD |
|
|
CA414068322 rs1436974827 |
423 | K>T | No |
ClinGen gnomAD |
|
|
CA333915035 rs1034553174 |
425 | E>G | No |
ClinGen Ensembl |
|
|
rs960246032 CA333915036 |
426 | D>H | No |
ClinGen Ensembl |
|
|
CA10475921 rs775040513 |
427 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1241941436 CA414068498 |
434 | I>T | No |
ClinGen TOPMed |
|
|
rs762318478 CA10475922 |
434 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA414068506 rs1314602059 |
436 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 438 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207416009 CA414068662 |
443 | K>N | No |
ClinGen TOPMed |
|
|
rs992281117 CA333915037 |
443 | K>T | No |
ClinGen Ensembl |
|
|
rs761610220 CA10475925 |
445 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs201473675 CA10475927 |
450 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760920872 CA10475928 |
452 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA414068860 rs186882890 |
455 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10475929 rs186882890 |
455 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1405965221 CA414068885 |
457 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1405965221 CA414068889 COSM3843053 |
457 | S>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 457 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765848046 CA10475932 |
458 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM456369 CA10475933 rs753200471 |
463 | H>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA333915038 rs140890801 |
463 | H>R | No |
ClinGen ESP TOPMed |
|
|
CA414068964 rs1458646609 |
464 | A>G | No |
ClinGen gnomAD |
|
|
rs947710517 CA333915039 |
464 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 467 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758896663 CA10475934 |
467 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 470 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753433648 CA333915041 |
473 | K>R | No |
ClinGen TOPMed |
|
|
rs1367794687 CA414069084 |
477 | S>* | No |
ClinGen TOPMed |
|
|
rs1164642994 CA414069102 |
479 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 480 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756875554 CA333915042 |
483 | N>K | No |
ClinGen TOPMed |
|
|
rs755810411 CA10475937 |
486 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778307769 CA333915044 |
489 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 489 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414069229 rs1390291216 |
490 | N>Y | No |
ClinGen gnomAD |
|
|
CA10475938 rs779531158 |
495 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA414069294 rs1290614480 |
496 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 499 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 500 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414069416 rs1233357976 |
505 | F>I | No |
ClinGen TOPMed |
|
|
rs748834056 CA10475939 |
508 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774329171 CA10475941 |
509 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774329171 CA414069465 |
509 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414069511 rs1293626733 |
513 | T>N | No |
ClinGen TOPMed |
|
|
CA10475944 rs773039042 |
518 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414069567 rs773039042 |
518 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358925759 CA414069573 |
519 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs367941873 CA10475945 |
519 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA333915045 rs887273515 |
523 | I>T | No |
ClinGen TOPMed |
|
|
CA333915046 rs539090958 |
525 | I>V | No |
ClinGen gnomAD |
|
|
CA10475946 rs200184974 |
527 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10475947 rs776653260 |
527 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10475948 rs759705815 |
529 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10475949 rs769324479 |
531 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 534 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10475951 rs775244048 |
540 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1351966633 CA414069879 |
546 | E>A | No |
ClinGen gnomAD |
|
|
CA414069877 rs1298188206 COSM1112108 |
546 | E>K | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1402782902 CA414069899 |
548 | R>K | No |
ClinGen gnomAD |
|
|
CA333915048 rs899863542 |
549 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 549 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA333915049 rs933186129 |
552 | I>M | No |
ClinGen TOPMed |
|
|
COSM293359 rs1366416541 CA414069954 |
553 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10475954 rs757494690 |
555 | I>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 557 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414070036 rs1408018339 |
559 | L>C | No |
ClinGen TOPMed |
No associated diseases with Q6P1M9
No regional properties for Q6P1M9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6P1M9 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UH62 | ARMCX3 | Armadillo repeat-containing X-linked protein 3 | Homo sapiens (Human) | PR |
| Q5U4C1 | Gprasp1 | G-protein coupled receptor-associated sorting protein 1 | Mus musculus (Mouse) | PR |
| Q8BUY8 | Gprasp2 | G-protein coupled receptor-associated sorting protein 2 | Mus musculus (Mouse) | PR |
| Q3UZB0 | Armcx5 | Armadillo repeat-containing X-linked protein 5 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVDSGTEARA | RGKAEAGLQD | GISGPATARV | NGKTQAEAVA | EAELKTESVT | QAKAGDGAMT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RTHTVTYREA | MAVTREVIKV | EDTTKTRVMV | ETKTKPLAER | SIVPQTKSKA | MPMSRVSTVT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KSEVKVVAVI | EANIRSYAKS | HDKANTGSRP | DRREETSIGM | KSSDEDEENI | CSWFWTGEEP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SVGSWFWPEE | ETSLQVYKPL | PKIQEKPKPT | HKPTLTIKQK | VIAWSRARYI | VLVPVEGGEQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLPPEGNWTL | VETLIETPLG | IRPLTKIPPY | HGPYYQTLAE | IKKQIRQREK | YGPNPKACHC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KSRGFSLEPK | EFDKLVALLK | LTKDPFIHEI | ATMIMGISPA | YPFTQDIIHD | VGITVMIENL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VNNPNVKEHP | GALSMVDDSS | ESSEEPKSGE | SYIHQVCKGI | ISCPLNSPVQ | LAGLKLLGHL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SIKFEDHYVI | TSYIPDFLTL | LNKGSVKTKF | YVLKVFSCLS | KNHANTRELI | SAKVLSSLVA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PFNKNESKAN | ILNIIEIFEN | INFQFKTKAK | LFTKEKFTKS | ELISIFQEAK | QFGQKLQDLA |
| 550 | |||||
| EHSDPEVRDK | VIRLILKL |