Q9Y581
Gene name |
INSL6 (RIF1) |
Protein name |
Insulin-like peptide INSL6 |
Names |
Insulin-like peptide 6, Relaxin/insulin-like factor 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11172 |
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 Q9Y581
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y581-F1 | Predicted | AlphaFoldDB |
303 variants for Q9Y581
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs144566910 CA4972719 |
2 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4972716 rs142813719 |
2 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372831739 rs142813719 |
2 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142813719 CA4972717 |
2 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144566910 CA4972718 |
2 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4972713 rs758608116 |
3 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM287379 CA4972714 rs373690238 |
3 | R>W | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752714146 CA188453813 |
4 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs752714146 CA4972712 |
4 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA372831734 rs1488209484 |
4 | L>V | No |
ClinGen TOPMed |
|
|
CA4972710 rs779233270 |
5 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372831731 rs779233270 |
5 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755134539 CA4972709 |
6 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs576555591 CA4972706 |
8 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576555591 CA372831712 |
8 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs144087410 CA4972708 |
8 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs576555591 CA4972707 |
8 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4972702 rs942662495 |
9 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4972699 rs748921712 |
10 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188453739 rs748921712 |
10 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188453720 rs367825102 CA372831698 |
11 | W>C | No |
ClinGen ESP |
|
|
rs779920842 CA188453721 |
11 | W>R | No |
ClinGen Ensembl |
|
|
rs35211475 CA4972697 |
12 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200449001 CA4972696 |
12 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35211475 CA372831697 |
12 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372831692 rs771364584 |
13 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA4972694 rs747364118 |
13 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4972695 rs771364584 |
13 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4972692 rs200880390 |
14 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200880390 CA188453690 |
14 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1036028390 CA188453679 |
15 | L>R | No |
ClinGen Ensembl |
|
|
CA372831685 rs778810658 |
15 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4972688 rs137949046 |
16 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553705920 CA4972687 |
17 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs553705920 CA372831674 |
17 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201600640 CA4972685 |
18 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757105790 CA4972686 |
18 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1586884373 CA372831667 |
19 | F>V | No |
ClinGen Ensembl |
|
|
CA4972684 rs202140762 |
19 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1327336666 CA372831659 |
20 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4972683 rs150295768 |
21 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1344986306 CA372831652 |
21 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1386057916 CA372831646 |
22 | E>D | No |
ClinGen gnomAD |
|
|
CA4972681 rs199592186 |
22 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368941917 CA372831643 |
23 | L>V | No |
ClinGen gnomAD |
|
|
COSM608741 CA4972680 rs759236184 |
24 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs969714285 CA188453623 |
25 | D>E | No |
ClinGen TOPMed |
|
|
rs1457875713 CA372831628 |
25 | D>G | No |
ClinGen TOPMed |
|
|
rs776204889 CA372831619 |
26 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372831609 rs1373367064 |
28 | S>G | No |
ClinGen gnomAD |
|
|
CA372831607 rs1172473325 |
28 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4972677 rs761160232 CA372831591 |
30 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372831595 rs1379081740 |
30 | R>W | No |
ClinGen TOPMed |
|
|
CA4972676 rs148371933 |
31 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368461380 CA4972674 |
31 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4972675 rs368461380 |
31 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA188453576 rs755672520 |
32 | L>P | No |
ClinGen Ensembl |
|
|
CA4972673 rs774494634 |
32 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749377607 CA4972671 |
34 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749377607 CA372831568 |
34 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374288687 CA372831562 |
35 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366288951 CA372831566 |
35 | R>W | No |
ClinGen gnomAD |
|
|
CA372831558 rs1323409412 |
36 | Y>D | No |
ClinGen gnomAD |
|
|
CA188453548 rs926839323 |
37 | L>F | No |
ClinGen TOPMed |
|
|
CA372831537 rs1564059792 |
39 | K>R | No |
ClinGen Ensembl |
|
|
rs866666085 CA188453547 |
40 | E>K | No |
ClinGen Ensembl |
|
|
CA4972669 rs756300946 |
41 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA188453540 rs981410441 |
44 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372831502 rs981410441 |
44 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs62637621 CA4972668 |
45 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4972665 rs758358190 |
46 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4972664 rs752515931 |
47 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs62620190 CA4972663 |
48 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1427922118 CA372831479 |
48 | A>T | No |
ClinGen Ensembl |
|
|
rs62620190 CA4972662 |
48 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372831471 rs753365466 |
49 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372831470 rs1177002915 CA372831469 |
49 | N>K | No |
ClinGen gnomAD |
|
|
CA4972661 rs753365466 |
49 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372831461 rs1424279175 |
50 | W>* | No |
ClinGen TOPMed |
|
|
CA372831459 rs1481136336 |
50 | W>* | No |
ClinGen gnomAD |
|
|
rs1032405198 CA188453448 |
51 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA372831442 rs1361521231 |
52 | Q>E | No |
ClinGen gnomAD |
|
|
CA4972660 rs766180898 |
52 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA372831437 rs766180898 |
52 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs888935699 CA188453443 |
53 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1000971406 CA188453444 |
53 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 54 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4972659 rs760356380 |
54 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773745265 CA372831416 |
54 | R>H | No |
ClinGen ExAC |
|
|
rs773745265 CA4972658 |
54 | R>P | No |
ClinGen ExAC |
|
|
rs1253150884 CA372831401 |
55 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA188453431 rs867229131 |
57 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA372831376 rs767708471 |
58 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4972655 rs762395288 |
58 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4972656 rs767708471 |
58 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4972654 rs745317622 |
59 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769204929 CA4972653 |
60 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA372831354 rs769204929 |
60 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4972652 rs749369990 |
61 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA4972651 rs775528701 |
61 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA188453396 rs780760292 |
63 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375327208 CA372831328 |
63 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs375327208 CA4972649 |
63 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4972650 rs780760292 |
63 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372831323 rs1217263780 |
64 | L>S | No |
ClinGen TOPMed |
|
|
CA372831306 rs1450203028 |
65 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4972648 rs777554114 |
67 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs552133251 CA4972646 |
68 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA188453360 rs1036248385 |
68 | A>V | No |
ClinGen Ensembl |
|
|
rs1157454272 CA372831271 |
69 | S>W | No |
ClinGen gnomAD |
|
|
CA188453336 rs1048870190 |
71 | K>E | No |
ClinGen TOPMed |
|
|
rs753418629 CA372831243 CA4972643 |
71 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4972642 rs373895718 |
72 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4972639 rs767186616 |
73 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs539770695 CA4972640 |
73 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA188453290 rs201962912 |
74 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762155136 CA4972638 |
74 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs201962912 CA188453285 |
74 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763403590 CA4972635 |
75 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4972636 rs764559997 |
75 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA372831213 rs764559997 |
75 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA4972634 rs758780998 |
76 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs759594828 CA4972633 |
76 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759594828 CA372831198 |
76 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759594828 CA4972632 |
76 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4972631 rs201847389 |
77 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA188453211 rs201847389 |
77 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4972628 rs778719232 |
78 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1317097109 CA372831177 |
78 | Y>C | No |
ClinGen gnomAD |
|
|
CA4972629 rs747940213 |
78 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140609583 CA4972627 |
79 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4972626 rs140609583 |
79 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372831165 rs1586884112 |
79 | Q>H | No |
ClinGen Ensembl |
|
|
CA4972625 rs145724246 |
79 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4972624 rs2149554 VAR_024329 |
80 | F>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA188453146 rs971310807 |
81 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4972621 rs756914318 |
82 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs780751879 CA4972622 |
82 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs764449120 CA4972619 |
83 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4972620 rs764449120 |
83 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4972615 rs759652062 |
84 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs776750067 CA372831100 |
85 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776750067 CA188453090 |
85 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776750067 CA4972614 |
85 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4972611 rs774022065 |
86 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA372831083 rs1001340090 |
87 | S>F | No |
ClinGen TOPMed |
|
|
CA188453070 rs1032372618 |
87 | S>T | No |
ClinGen Ensembl |
|
|
CA188453069 rs1001340090 |
87 | S>Y | No |
ClinGen TOPMed |
|
|
rs587783069 RCV000144677 |
88 | P>missing | No |
ClinVar dbSNP |
|
|
CA372831077 rs754042711 |
88 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754042711 CA4972609 |
88 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA372831079 rs1229810864 |
88 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs866705752 CA188453023 |
89 | A>D | No |
ClinGen Ensembl |
|
|
CA372831073 rs144467909 |
89 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4972608 rs144467909 |
89 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA188453036 rs144467909 |
89 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372831067 rs140515241 |
90 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780707256 CA4972605 |
90 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4972606 rs140515241 |
90 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372831050 rs1404023755 |
92 | R>K | No |
ClinGen gnomAD |
|
|
CA372831046 rs1365795277 |
92 | R>S | No |
ClinGen gnomAD |
|
|
rs531827751 CA4972604 |
93 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4972602 rs777275112 |
95 | N>H | No |
ClinGen ExAC |
|
|
rs760888692 CA188452977 |
96 | P>S | No |
ClinGen TOPMed |
|
|
rs201363703 CA4972601 |
97 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372832509 rs1452228380 |
98 | S>F | No |
ClinGen gnomAD |
|
|
rs1404284561 CA372832513 |
98 | S>P | No |
ClinGen gnomAD |
|
|
CA4972565 rs147189972 |
99 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372832505 rs1361017976 |
99 | T>I | No |
ClinGen gnomAD |
|
|
CA4972564 rs147189972 |
99 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147189972 CA372832508 |
99 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779264313 CA4972561 |
101 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747730569 CA4972562 |
101 | W>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 102 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA188485988 rs997608073 |
102 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372832491 rs997608073 |
102 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs769124888 CA372832476 |
104 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs769124888 CA4972560 |
104 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749611216 CA4972559 |
104 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs754591383 CA4972557 |
105 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372832472 rs1483516582 |
105 | V>I | No |
ClinGen gnomAD |
|
|
CA372832465 rs1564049614 |
106 | N>H | No |
ClinGen Ensembl |
|
|
rs1213024127 CA372832463 |
106 | N>S | No |
ClinGen gnomAD |
|
|
rs781383014 CA4972555 |
107 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4972554 rs757560259 |
107 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA372832447 rs1254937211 |
108 | W>* | No |
ClinGen TOPMed |
|
|
CA372832449 rs1231495874 |
108 | W>S | No |
ClinGen TOPMed |
|
|
rs1564049595 CA372832441 |
109 | E>G | No |
ClinGen Ensembl |
|
|
CA372832444 rs1381072524 |
109 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA188485914 rs148422893 |
111 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373169579 CA4972551 |
112 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372832412 rs1197201073 |
113 | L>P | No |
ClinGen TOPMed |
|
|
CA188485908 rs566868714 |
115 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA372832395 rs1470531899 |
116 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs753550479 CA4972549 |
116 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs753550479 CA4972548 |
116 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA4972546 rs760489584 |
117 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA372832388 rs1586870909 |
117 | K>R | No |
ClinGen Ensembl |
|
|
rs771512233 CA4972544 |
118 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4972545 rs369136600 |
118 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457206008 COSM1554966 CA372832382 |
118 | D>Y | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA372832350 rs1424390942 |
122 | Y>* | No |
ClinGen gnomAD |
|
|
CA372832355 rs1411874410 |
122 | Y>H | No |
ClinGen gnomAD |
|
|
CA4972543 rs761301478 |
123 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4972541 rs768162857 |
126 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA372832330 rs1470846896 |
126 | G>R | No |
ClinGen gnomAD |
|
|
rs768162857 CA188485865 |
126 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA372832311 rs1564049541 |
129 | R>K | No |
ClinGen Ensembl |
|
|
rs780234860 CA4972538 |
130 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356786590 CA372832289 |
132 | S>A | No |
ClinGen gnomAD |
|
|
rs1291595676 CA372832287 |
132 | S>C | No |
ClinGen gnomAD |
|
|
rs34832229 CA4972536 RCV000967114 |
135 | H>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs746313746 CA4972535 |
137 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188485800 rs994783034 |
137 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA372832246 rs757475664 |
138 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372832234 rs1164392086 |
140 | Y>C | No |
ClinGen gnomAD |
|
|
rs949882923 CA188485731 |
141 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA188485740 rs949882923 |
141 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs532468526 CA372832225 |
142 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs532468526 CA4972530 |
142 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM275573 rs913059616 CA188485726 |
143 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1316901192 CA372832216 |
143 | E>G | No |
ClinGen TOPMed |
|
|
CA4972529 rs753696096 |
144 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA372832208 rs1427829667 |
144 | N>S | No |
ClinGen gnomAD |
|
|
rs753136515 CA188485715 |
145 | A>T | No |
ClinGen Ensembl |
|
|
rs1195208164 CA372832182 |
148 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs565291208 CA4972528 |
148 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA188485712 rs935917390 |
151 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4972527 rs34567633 |
151 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372832159 rs34567633 |
151 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188485711 rs34567633 |
151 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188485702 rs750419451 |
152 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4972526 rs750419451 |
152 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140593025 CA372832147 |
153 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372832141 rs138452027 |
154 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4972524 rs138452027 |
154 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319201154 CA372832137 |
155 | I>V | No |
ClinGen gnomAD |
|
|
rs1167310866 CA372832124 |
156 | K>N | No |
ClinGen TOPMed |
|
|
CA4972523 rs773830804 |
157 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765861093 CA4972521 |
159 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4972520 rs145774751 |
160 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4972519 rs372626636 |
161 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4972517 rs777314219 |
163 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs202029159 CA4972516 |
163 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368362599 CA372832075 |
164 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368362599 CA4972515 |
164 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4972513 rs758649480 |
166 | H>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 166 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA188485599 rs1015081490 |
167 | P>L | No |
ClinGen Ensembl |
|
|
CA372832049 rs1248939122 |
168 | Q>* | No |
ClinGen gnomAD |
|
|
rs755970119 CA372832047 |
168 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA4972510 rs755970119 |
168 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1564049386 CA372832041 |
169 | R>T | No |
ClinGen Ensembl |
|
|
rs767494322 CA4972508 |
171 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1322949204 CA372832027 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757138594 CA4972507 |
172 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372832022 rs1243775002 |
172 | R>T | No |
ClinGen TOPMed |
|
|
rs1334200577 CA372832016 |
173 | G>E | No |
ClinGen gnomAD |
|
|
rs751114432 CA4972506 |
173 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA372832009 rs763447972 |
174 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4972505 rs763447972 |
174 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA4972504 rs762683628 |
176 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1352713018 CA372832000 |
176 | E>K | No |
ClinGen TOPMed |
|
|
rs775067226 CA4972503 |
177 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA188485522 rs755562723 |
178 | C>Y | No |
ClinGen gnomAD |
|
|
CA4972502 rs764909150 |
179 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs952307781 CA188485507 |
180 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4972500 rs777085197 |
181 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA372831956 rs1440736559 |
183 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs140629472 CA4972498 |
183 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182345729 CA372831949 |
184 | T>A | No |
ClinGen gnomAD |
|
|
CA372831942 rs1279506935 |
185 | K>E | No |
ClinGen gnomAD |
|
|
rs773353870 CA4972497 |
185 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs748253897 CA4972495 |
187 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4972494 rs180824328 |
188 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA4972492 rs755172710 |
190 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA372831902 rs970807459 |
191 | A>P | No |
ClinGen TOPMed |
|
|
CA372831901 rs970807459 |
191 | A>S | No |
ClinGen TOPMed |
|
|
rs970807459 CA188485456 |
191 | A>T | No |
ClinGen TOPMed |
|
|
CA372831892 rs1311140046 |
192 | C>F | No |
ClinGen gnomAD |
|
|
rs1386693144 CA372831887 |
193 | L>F | No |
ClinGen gnomAD |
|
|
rs780928550 CA4972490 |
193 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs751399042 CA4972488 |
194 | P>A | No |
ClinGen ExAC |
|
|
CA372831875 rs1415683524 |
195 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 196 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382095521 CA372831870 |
196 | I>V | No |
ClinGen gnomAD |
|
|
rs757883461 COSM1109367 CA4972486 |
198 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 198 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4972484 rs765000491 |
200 | R>K | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 201 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754257221 CA4972482 |
202 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372831816 rs1564049277 |
203 | E>D | No |
ClinGen Ensembl |
|
|
CA188485410 rs373708383 |
204 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4972481 rs766790610 |
205 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766790610 CA372831806 |
205 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395278205 CA372831799 |
206 | S>* | No |
ClinGen TOPMed |
|
|
rs761107037 CA4972479 |
207 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA188485389 rs372996592 |
209 | V>L | No |
ClinGen gnomAD |
|
|
rs772600588 CA4972477 |
211 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA372831766 rs1355294638 |
212 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4972476 rs761848417 |
213 | Y>H | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9Y581
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| hormone activity | The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPRLLRLSLL | WLGLLLVRFS | RELSDISSAR | KLCGRYLVKE | IEKLCGHANW | SQFRFEEETP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FSRLIAQASE | KVEAYSPYQF | ESPQTASPAR | GRGTNPVSTS | WEEAVNSWEM | QSLPEYKDKK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GYSPLGKTRE | FSSSHNINVY | IHENAKFQKK | RRNKIKTLSN | LFWGHHPQRK | RRGYSEKCCL |
| 190 | 200 | 210 | |||
| TGCTKEELSI | ACLPYIDFKR | LKEKRSSLVT | KIY |