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

2 regional properties for Q9Y581

Type Name Position InterPro Accession
domain Insulin-like 30 - 192 IPR016179
conserved_site Insulin, conserved site 178 - 192 IPR022353

Functions

Description
EC Number
Subcellular Localization
  • Secreted
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

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

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9QY05 Insl6 Insulin-like peptide INSL6 Mus musculus (Mouse) PR
Q9WV41 Insl6 Insulin-like peptide INSL6 Rattus norvegicus (Rat) PR
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