A6NI87
Gene name |
CBY3 |
Protein name |
Protein chibby homolog 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:646019 |
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 A6NI87
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NI87-F1 | Predicted | AlphaFoldDB |
264 variants for A6NI87
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3598173 rs755619472 |
2 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1337950828 CA362470155 |
3 | A>T | No |
ClinGen gnomAD |
|
|
CA362470115 rs1435385383 |
4 | S>C | No |
Ensembl ClinGen |
|
|
CA133108687 rs552762374 |
6 | D>G | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs1581810456 CA362469978 |
10 | E>D | No |
ClinGen Ensembl |
|
|
CA362469991 rs1445313528 |
10 | E>K | No |
ClinGen TOPMed |
|
|
CA362469902 rs1291158900 |
14 | G>E | No |
ClinGen gnomAD |
|
|
rs896453777 CA133108675 |
16 | A>T | No |
TOPMed ClinGen |
|
|
CA362469387 rs1202049991 |
16 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1187335125 CA362469379 |
17 | A>G | No |
ClinGen TOPMed |
|
|
CA362469357 rs1581807861 |
18 | P>S | No |
ClinGen Ensembl |
|
|
CA133107689 rs1030917619 |
19 | P>S | No |
ClinGen TOPMed |
|
|
rs1293806998 CA362469319 |
20 | G>D | No |
TOPMed gnomAD ClinGen |
|
|
rs917517349 CA133107683 |
20 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs774168471 CA3598169 |
21 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3598168 rs766157708 |
23 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472842269 CA362469259 |
24 | S>P | No |
gnomAD ClinGen |
|
|
CA362469211 rs1428584379 |
26 | W>* | No |
gnomAD ClinGen |
|
|
CA133107669 rs991716205 |
26 | W>R | No |
ClinGen Ensembl |
|
|
CA133107667 rs868665108 |
27 | T>A | No |
ClinGen Ensembl |
|
|
CA3598167 rs763227704 |
28 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362469162 rs1581807775 |
28 | S>P | No |
Ensembl ClinGen |
|
|
rs1204735500 CA362469116 |
29 | G>E | No |
gnomAD ClinGen |
|
|
CA362469147 rs1268285344 |
29 | G>R | No |
gnomAD ClinGen |
|
|
CA3598166 rs773246600 |
30 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA362469051 rs1323452715 |
31 | P>A | No |
gnomAD ClinGen |
|
|
rs925910983 CA133107646 |
31 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs925910983 CA133107662 |
31 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362469013 rs1346457126 |
32 | R>K | No |
ClinGen TOPMed |
|
|
CA362468966 rs1332273084 |
34 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 35 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362468907 rs1301394585 |
35 | R>L | No |
gnomAD ClinGen |
|
|
CA362468816 rs1362593697 |
38 | S>N | No |
ClinGen gnomAD |
|
|
CA362468813 rs1362593697 |
38 | S>T | No |
gnomAD ClinGen |
|
|
CA133107631 rs762709823 |
39 | R>H | No |
TOPMed ClinGen |
|
|
rs1322279197 CA362468796 |
39 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362468761 rs1457632343 |
40 | Q>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1405223711 CA362468745 |
41 | R>C | No |
gnomAD ClinGen |
|
|
rs748182786 CA3598164 |
41 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405223711 CA362468752 |
41 | R>S | No |
gnomAD ClinGen |
|
|
rs1334143407 CA362468716 |
42 | S>F | No |
ClinGen TOPMed |
|
|
rs1293806638 CA362468723 |
42 | S>T | No |
ClinGen TOPMed |
|
|
CA3598162 rs769126790 |
43 | R>G | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 43 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008716634 CA133107594 |
43 | R>Q | No |
ClinGen Ensembl |
|
|
rs1581807655 CA362468672 |
44 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 44 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133107593 rs954518169 |
44 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1028887613 CA133107592 |
45 | S>F | No |
ClinGen Ensembl |
|
|
rs1426948110 CA362468599 |
47 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA362468594 rs1189581797 |
48 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1461187293 CA362468573 |
48 | S>R | No |
gnomAD ClinGen |
|
|
CA362468568 rs1581807620 |
49 | T>P | No |
Ensembl ClinGen |
|
|
rs1261689542 CA362468543 |
50 | C>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1261689542 CA362468551 |
50 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1400185860 CA362468528 |
51 | V>E | No |
ClinGen gnomAD |
|
|
CA362468535 rs1202657561 |
51 | V>M | No |
ClinGen gnomAD |
|
|
CA133107560 rs898840513 |
52 | P>S | No |
gnomAD ClinGen |
|
|
CA362468472 rs1372712360 |
54 | K>E | No |
gnomAD ClinGen |
|
|
rs1320731266 CA362468454 |
54 | K>N | No |
TOPMed ClinGen |
|
|
CA362468448 rs1256010548 |
55 | V>L | No |
gnomAD ClinGen |
|
|
CA362468424 rs1163414439 |
56 | H>R | No |
TOPMed ClinGen |
|
|
CA133107551 rs1037806894 |
57 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA362468386 rs1362575366 |
59 | A>T | No |
ClinGen gnomAD |
|
|
CA133107527 rs986988481 |
60 | T>P | No |
Ensembl ClinGen |
|
|
TCGA novel rs1435515354 CA362468324 |
61 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD ClinGen |
|
rs1381707004 CA362468321 |
62 | E>K | No |
ClinGen gnomAD |
|
|
rs1397653593 CA362468295 |
63 | C>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1397653593 CA362468297 |
63 | C>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1402898115 CA362468286 |
63 | C>Y | No |
gnomAD ClinGen |
|
|
rs762646462 CA133107511 |
65 | A>G | No |
ClinGen TOPMed |
|
|
rs1167404870 CA362468225 |
66 | T>M | No |
ClinGen gnomAD |
|
|
rs1046150925 CA133107501 |
68 | H>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA362468185 rs1169416129 |
69 | A>V | No |
gnomAD ClinGen |
|
|
CA362468180 rs1224447681 |
70 | S>C | No |
TOPMed ClinGen |
|
|
CA362468181 rs1224447681 |
70 | S>G | No |
TOPMed ClinGen |
|
|
rs1047966904 CA133107482 |
70 | S>N | No |
TOPMed gnomAD ClinGen |
|
|
CA133107480 rs760010939 |
70 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs187808595 CA3598159 |
71 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA362468175 rs187808595 |
71 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA362468172 rs1443481832 |
71 | R>L | No |
ClinGen gnomAD |
|
|
CA362468162 rs1485559883 |
73 | W>* | No |
ClinGen TOPMed |
|
|
rs116305151 CA3598158 |
73 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866896002 CA133107463 |
74 | Q>K | No |
ClinGen Ensembl |
|
|
CA362468150 rs1276183189 |
75 | T>A | No |
ClinGen gnomAD |
|
|
rs1056064556 CA133107461 |
77 | Q>* | No |
gnomAD ClinGen |
|
|
rs937622709 CA133107434 |
78 | Q>* | No |
TOPMed gnomAD ClinGen |
|
|
CA3598157 rs777528778 |
78 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3598156 rs755854814 |
79 | F>L | No |
ExAC ClinGen |
|
|
CA362468114 rs1272061472 |
80 | W>* | No |
ClinGen gnomAD |
|
|
CA362468107 rs1407949162 |
81 | A>G | No |
gnomAD ClinGen |
|
|
rs1328161515 CA362468109 |
81 | A>T | No |
gnomAD ClinGen |
|
|
CA362468106 rs1407949162 |
81 | A>V | No |
gnomAD ClinGen |
|
|
rs530037246 CA133107390 |
82 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs530037246 CA362468104 |
82 | D>Y | No |
TOPMed gnomAD ClinGen |
|
|
rs1308716375 CA362468092 |
83 | H>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs1424188488 CA362468086 |
84 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362468076 rs1581807388 |
86 | R>W | No |
ClinGen Ensembl |
|
| TCGA novel | 87 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362468059 rs1165355598 |
88 | F>L | No |
TOPMed gnomAD ClinGen |
|
|
CA362468049 rs1473353157 |
90 | P>L | No |
gnomAD ClinGen |
|
|
CA362468040 rs1363703932 |
92 | R>W | No |
gnomAD ClinGen |
|
|
rs1330778064 CA362468032 |
93 | P>L | No |
ClinGen TOPMed |
|
|
CA362468034 rs1180222274 |
93 | P>S | No |
ClinGen gnomAD |
|
|
rs1205325514 CA362468021 |
95 | L>P | No |
TOPMed gnomAD ClinGen |
|
|
rs752235289 CA3598155 |
96 | R>H | No |
ExAC gnomAD ClinGen |
|
|
rs752235289 CA133107371 |
96 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA362467995 rs1229801303 |
99 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1226431073 CA362467978 |
102 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133107369 rs979192693 |
103 | T>S | No |
ClinGen Ensembl |
|
|
CA362467929 rs1348323300 |
110 | N>H | No |
gnomAD ClinGen |
|
|
CA133107322 rs967394223 |
110 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1384647293 CA362467920 |
111 | T>K | No |
ClinGen gnomAD |
|
|
rs1384647293 CA362467918 |
111 | T>M | No |
ClinGen gnomAD |
|
|
CA362467909 rs1473851220 |
112 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 112 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 115 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA133107274 rs913333521 |
115 | E>D | No |
ClinGen Ensembl |
|
|
rs1182230701 CA362467872 |
115 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769343609 CA133107288 |
115 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA133107267 rs563732089 |
116 | L>R | No |
1000Genomes ClinGen |
|
|
CA362467844 rs1244501977 |
117 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1451828013 CA362467836 |
118 | L>V | No |
ClinGen gnomAD |
|
|
rs1283219579 CA362467804 |
120 | Y>C | No |
ClinGen gnomAD |
|
|
rs1206650029 CA362467796 |
121 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1206650029 CA362467794 |
121 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1562424178 CA362467757 |
124 | C>R | No |
Ensembl ClinGen |
|
|
CA362467734 rs1222957344 |
125 | M>I | No |
gnomAD ClinGen |
|
|
CA133107195 rs1028750251 |
125 | M>V | No |
TOPMed gnomAD ClinGen |
|
|
CA362467715 rs1365516933 |
126 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1365516933 CA362467725 |
126 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1437372605 CA362467679 |
128 | S>N | No |
ClinGen gnomAD |
|
|
rs1326130990 CA362467650 |
129 | N>K | No |
ClinGen gnomAD |
|
|
rs766357097 CA3598150 |
130 | Q>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362467617 rs1374704123 |
131 | A>T | No |
TOPMed ClinGen |
|
|
rs1581807111 CA362467581 |
133 | V>M | No |
ClinGen Ensembl |
|
|
CA362467544 rs1443247416 |
135 | R>H | No |
TOPMed ClinGen |
|
|
CA3598149 rs762583894 |
136 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1192444396 CA362467511 |
138 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs915051017 CA133107174 |
139 | W>* | No |
ClinGen TOPMed |
|
|
rs1478142430 CA362467467 |
141 | T>P | No |
gnomAD ClinGen |
|
|
rs1581807053 CA362467440 |
143 | S>G | No |
ClinGen Ensembl |
|
|
rs990600735 CA133107150 |
144 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs990600735 CA362467420 |
144 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1247099182 CA362467413 |
145 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1247099182 CA362467414 |
145 | L>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA362467389 rs1268550218 |
149 | R>L | No |
ClinGen gnomAD |
|
|
CA362467392 rs1431162308 |
149 | R>W | No |
TOPMed ClinGen |
|
|
rs959223311 CA133107142 |
150 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1338950041 CA362467367 |
153 | L>P | No |
gnomAD ClinGen |
|
|
CA133107129 rs1016168257 |
155 | R>L | No |
ClinGen TOPMed |
|
|
CA362467350 rs1581806962 |
156 | T>I | No |
ClinGen Ensembl |
|
|
CA3598145 rs776658976 |
158 | W>* | No |
ExAC gnomAD ClinGen |
|
|
CA133107083 rs370083020 |
158 | W>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs370083020 CA3598146 |
158 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs182438589 CA133107069 |
159 | G>D | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs182438589 CA362467314 |
159 | G>V | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs1446393417 CA362467280 |
162 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
CA362467258 rs1177595105 |
164 | V>M | No |
ClinGen gnomAD |
|
|
rs768789508 CA3598144 |
165 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA362467197 rs375782480 |
166 | R>L | No |
ESP gnomAD ClinGen |
|
|
CA362467200 rs375782480 |
166 | R>P | No |
ESP gnomAD ClinGen |
|
|
rs375782480 CA133107060 |
166 | R>Q | No |
ESP gnomAD ClinGen |
|
|
CA3598143 rs142620558 |
169 | S>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs775793781 CA362467103 |
170 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
rs899423770 CA133107041 |
171 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA133107040 rs777974944 |
174 | E>K | No |
Ensembl ClinGen |
|
|
rs746172220 CA3598140 |
175 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs1562423794 CA362466983 |
176 | N>I | No |
ClinGen Ensembl |
|
|
rs779470825 CA3598139 |
178 | Y>H | No |
ExAC ClinGen |
|
|
rs1210880668 CA362466920 |
179 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362466900 rs1212074801 |
180 | K>T | No |
TOPMed gnomAD ClinGen |
|
|
CA362466887 rs904804054 |
181 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA133107012 rs904804054 |
181 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1562423735 CA362466843 |
183 | Q>E | No |
Ensembl ClinGen |
|
|
rs772013802 CA133107004 |
187 | I>L | No |
ClinGen TOPMed |
|
|
rs1343160608 CA362466745 |
187 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA362466757 rs772013802 |
187 | I>V | No |
TOPMed ClinGen |
|
|
CA362466649 rs1456484426 |
189 | M>I | No |
ClinGen TOPMed |
|
|
CA133106994 rs1051816691 |
189 | M>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1051816691 CA362466679 |
189 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA133106990 rs748417764 |
193 | T>A | No |
TOPMed ClinGen |
|
|
rs1386015065 CA362466503 |
193 | T>S | No |
ClinGen TOPMed |
|
|
rs530023226 CA133106988 |
194 | M>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1043287274 CA133106989 |
194 | M>K | No |
gnomAD ClinGen |
|
|
CA362466469 rs1043287274 |
194 | M>T | No |
gnomAD ClinGen |
|
|
CA362466484 rs1303980021 |
194 | M>V | No |
ClinGen gnomAD |
|
|
rs1305645251 CA362466440 |
195 | A>G | No |
gnomAD ClinGen |
|
|
CA3598135 rs780839309 |
195 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3598134 rs546644235 |
196 | R>C | No |
ExAC gnomAD ClinGen |
|
|
rs868724108 CA133106976 |
196 | R>H | No |
gnomAD ClinGen |
|
|
rs1421889692 CA362466366 |
197 | M>I | No |
ClinGen gnomAD |
|
|
rs779126754 CA133106970 |
197 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
CA362466275 rs1234380379 |
200 | L>P | No |
TOPMed ClinGen |
|
|
rs562797198 CA362466241 |
201 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA362466263 rs1207457763 |
201 | E>G | No |
gnomAD ClinGen |
|
|
CA362466270 rs1249645386 |
201 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265122718 CA362466199 |
204 | R>C | No |
gnomAD ClinGen |
|
|
CA3598133 rs751081425 |
204 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1562423475 CA362466185 |
205 | N>K | No |
ClinGen Ensembl |
|
|
rs200177340 CA3598131 |
205 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA133106902 rs558988617 |
206 | P>T | No |
1000Genomes TOPMed ClinGen |
|
|
rs1349188129 CA362466153 |
207 | E>K | No |
ClinGen gnomAD |
|
|
CA362466081 rs1411168206 |
208 | V>A | No |
gnomAD ClinGen |
|
|
CA3598129 rs765055756 |
208 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133106873 rs975006182 |
209 | I>N | No |
gnomAD ClinGen |
|
|
CA362466049 rs975006182 |
209 | I>T | No |
ClinGen gnomAD |
|
|
CA362466014 rs1161453509 |
210 | P>Q | No |
TOPMed ClinGen |
|
|
CA362465986 rs1419261221 |
211 | T>R | No |
TOPMed ClinGen |
|
|
CA362465933 rs1456094650 |
212 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1456094650 CA362465944 |
212 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs78613293 CA3598126 |
213 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201900739 CA3598127 |
213 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1024678750 CA133106829 |
214 | A>G | No |
ClinGen Ensembl |
|
|
rs1266783368 CA362465814 |
216 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs760632581 CA3598125 |
216 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA362465762 rs1480475792 |
217 | G>A | No |
gnomAD ClinGen |
|
|
CA362465731 rs1562423248 |
218 | Q>* | No |
Ensembl ClinGen |
|
|
CA362465734 rs1562423248 |
218 | Q>E | No |
Ensembl ClinGen |
|
|
CA362465717 rs1266342143 |
218 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3598122 rs555166898 |
219 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA133106755 rs555166898 |
219 | R>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs904667876 CA133106749 |
219 | R>S | No |
TOPMed gnomAD ClinGen |
|
|
rs774855235 CA3598121 |
221 | M>I | No |
ExAC gnomAD ClinGen |
|
|
rs1229573678 CA362465626 |
221 | M>K | No |
gnomAD ClinGen |
|
|
rs1229573678 CA362465631 |
221 | M>T | No |
ClinGen gnomAD |
|
|
CA362465604 rs1299265934 |
222 | R>H | No |
ClinGen TOPMed |
|
|
CA362465542 rs1369360341 |
223 | K>N | No |
gnomAD ClinGen |
|
|
CA362465578 rs1384661169 |
223 | K>Q | No |
gnomAD ClinGen |
|
|
rs567422903 CA133106725 |
224 | R>C | No |
1000Genomes ClinGen |
|
|
CA3598119 rs567422903 |
224 | R>G | No |
ClinGen 1000Genomes |
|
|
CA362465523 rs1293896198 |
224 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
CA362465517 rs1293896198 |
224 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362464719 rs1209925891 |
225 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362464674 rs1386330172 |
228 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA362464676 rs1386330172 |
228 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1205080873 CA362464650 |
229 | A>P | No |
ClinGen TOPMed |
|
|
rs1562423075 CA362464640 |
229 | A>V | No |
Ensembl ClinGen |
|
|
rs1161218363 CA362464633 |
230 | G>S | No |
gnomAD ClinGen |
|
|
CA133106718 rs892039992 |
230 | G>V | No |
Ensembl ClinGen |
|
|
rs780929318 CA3598116 |
233 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA133106701 rs569095817 |
233 | M>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3598117 rs749688064 |
233 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA133106686 rs749688064 |
233 | M>T | No |
ExAC gnomAD ClinGen |
|
|
CA3598118 rs569095817 |
233 | M>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1435115050 CA362464544 |
234 | I>M | No |
ClinGen gnomAD |
|
|
rs1562423010 CA362464534 |
235 | Q>* | No |
Ensembl ClinGen |
|
|
rs1188304010 CA362464519 |
236 | P>S | No |
ClinGen gnomAD |
|
|
CA3598115 rs768382885 |
237 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs746451968 CA3598114 |
237 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs922032487 CA133106678 |
239 | L>P | No |
Ensembl ClinGen |
|
|
rs1254892712 CA362464457 |
239 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
rs199692218 CA3598112 |
240 | D>A | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA362464431 rs1230526172 |
240 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA362464437 rs199692218 |
240 | D>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA362464415 rs1313562166 |
241 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362464404 rs1433926621 |
242 | Q>* | No |
gnomAD ClinGen |
|
|
CA362464399 rs1394589183 |
242 | Q>P | No |
ClinGen TOPMed |
|
|
CA3598111 rs538946054 |
243 | Q>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs982365257 CA133106654 |
243 | Q>W | No |
ClinGen TOPMed gnomAD |
No associated diseases with A6NI87
No regional properties for A6NI87
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A6NI87 | |||
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 |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWASRDHLPE | PDLGDAAPPG | SPSSFWTSGL | PRQERSTSRQ | RSRGSPSSTC | VPYKVHALAT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FECSATSHAS | RLWQTLQQFW | ADHISRPFSP | RRPPLRRMPS | LSTFYLLDHN | TRQAELGLAY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GAPCMRLSNQ | AFVFRGGRWT | TESQLARTRS | PLLSRTAWGW | KAQVQRSKSQ | VLLEENNYLK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LQQELLIDML | TETMARMHLL | EKQRNPEVIP | TAAARAGQRK | MRKRAGASAG | VLMIQPCALD |
| SQ |