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 Q8NFJ6

Entry ID Method Resolution Chain Position Source
AF-Q8NFJ6-F1 Predicted AlphaFoldDB

372 variants for Q8NFJ6

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000022409
RCV000479789
RCV001818122
rs587777834
RCV000623831
RCV002288460
20 H>missing Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 2 with or without anosmia Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
RCV000256868
rs886037916
CA10590049
33 Y>H Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000861011
COSM1533981
RCV000405604
rs144994507
CA9754423
RCV000622788
RCV001699378
51 A>T lung Hypogonadotropic hypogonadism 3 with or without anosmia Inborn genetic diseases [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001138033
CA9754418
rs201283126
57 G>C Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001138032
CA9754407
rs764674615
70 G>S Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000239076
RCV000144712
rs141090506
RCV000520900
VAR_030957
COSM72301
CA170931
RCV002247534
85 R>C Hypogonadotropic hypogonadism 3 with or without anosmia ovary liver oesophagus Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) Hypogonadotropic hypogonadism 3 without anosmia HH3; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; decreased signaling activity [ClinVar, Cosmic, Ensembl, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000345795
CA9754396
RCV000413366
rs141090506
85 R>G Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) [ClinVar, Ensembl] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001849252
RCV002254257
rs74315418
VAR_030958
RCV000022408
CA259601
RCV000498536
85 R>H Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadism with anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) HH3; decreased signaling activity [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000305149
CA9754395
RCV001281470
rs74315418
RCV002520022
85 R>L Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) [ClinVar, Ensembl] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM233185
RCV001142775
RCV002559382
rs756998275
CA408167927
110 E>K Hypogonadotropic hypogonadism 3 with or without anosmia Variant assessed as Somatic; 0.0 impact. skin endometrium [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
RCV000782204
rs914930539
RCV001542623
RCV001849439
CA311178755
111 M>R Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) [ClinVar, Ensembl] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV002248622
VAR_072173
RCV000404745
CA9754374
rs202203360
113 Y>H Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) HH3 [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA270916
COSM1028228
rs138672528
RCV000144713
VAR_069964
115 V>M Hypogonadotropic hypogonadism 3 with or without anosmia Variant assessed as Somatic; 0.0 impact. endometrium Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) HH3; phenotype consistent with Kallmann syndrome [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs200048973
CA9754368
RCV000340194
126 V>M Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001819718
RCV001009616
RCV001759688
CA9754361
rs149396342
135 R>C Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9754334
rs368732206
VAR_072978
158 V>I Variant assessed as Somatic; 0.0 impact. HH3; phenotype consistent with Kallmann syndrome [NCI-TCGA, UniProt] Yes ClinGen
UniProt
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs751875578
CA311167332
COSM2157500
VAR_030959
164 R>Q Variant assessed as Somatic; 0.0 impact. central_nervous_system HH3; phenotype consistent with Kallmann syndrome; decreased signaling activity [NCI-TCGA, Cosmic, UniProt] Yes ClinGen
cosmic curated
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV001142773
rs527771034
COSM2763774
CA9754328
169 T>M Hypogonadotropic hypogonadism 3 with or without anosmia Variant assessed as Somatic; 0.0 impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs74315416
RCV000516948
RCV000239273
VAR_030960
CA259599
RCV000022406
RCV001327944
173 L>R Hypogonadotropic hypogonadism 3 with or without anosmia Infertility Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) HH3; phenotype consistent with Kallmann syndrome; decreased signaling activity [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000870421
VAR_030961
RCV000144714
CA270917
rs201835496
178 W>S Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) HH3; decreased signaling activity [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs543677594
RCV001140931
CA9754320
180 V>M Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
RCV002505183
VAR_072174
RCV000156965
CA185891
rs376239580
RCV002250579
188 S>L Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) Hypogonadotropic hypogonadism 7 with or without anosmia HH3 [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9754309
rs200755554
VAR_069965
202 S>G HH3; triallelic inheritance; the patient also carries mutations in GNRH1 and FGFR1 [UniProt] Yes ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs74315417
VAR_030962
RCV000022407
RCV001797584
CA259600
210 Q>R Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) HH3; phenotype consistent with Kallmann syndrome; decreased signaling activity; abolished ligand binding [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
TOPMed
dbSNP
gnomAD
CA408167147
RCV001007930
rs1600577387
229 G>R Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001140930
CA408167068
RCV002559366
rs1404173625
242 C>Y Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001009617
rs921084722
CA311166914
243 Y>C Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV001140929
RCV002514778
rs376142095
RCV000144715
VAR_072175
CA170932
248 R>Q Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) Hypogonadotropic hypogonadism 3 without anosmia HH3 [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000087251
RCV002490755
rs483352766
CA229206
248 R>W Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001140928
rs143647776
CA408166910
266 R>L Hypogonadotropic hypogonadism 3 with or without anosmia Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
VAR_030963
RCV000712861
RCV000386257
CA9754278
rs78861628
RCV000330452
268 R>C Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) HH3; benign variant; signaling activity is impaired [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM3371730
CA9754273
RCV001140170
RCV002559354
rs146544539
270 R>H Hypogonadotropic hypogonadism 3 with or without anosmia Variant assessed as Somatic; 0.0 impact. pancreas [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs149992595
RCV001140169
RCV001565285
VAR_030964
CA9754257
290 P>S Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) HH3; phenotype consistent with Kallmann syndrome; signaling activity is impaired; impaired cell surface-targeting [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA408166728
rs139399061
RCV000859991
297 V>F Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) [ClinVar, Ensembl] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM2153537
CA9754251
RCV002550615
RCV000990279
rs139399061
297 V>I Hypogonadotropic hypogonadism 3 with or without anosmia central_nervous_system Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) [ClinVar, Cosmic, Ensembl] Yes ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000388350
rs775755881
CA9754243
310 H>Q Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA9754236
RCV000326819
rs754796297
319 E>K Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA259603
VAR_030965
rs74315419
RCV000022410
323 M>I Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) HH3; phenotype consistent with Kallmann syndrome; signaling activity is impaired [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_030966
CA9754228
rs117106081
RCV000860781
RCV001002764
RCV000435948
COSM84707
331 V>M Hypogonadotropic hypogonadism 3 with or without anosmia pancreas HH3; likely benign variant [ClinVar, Cosmic, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
1000Genomes
ESP
TOPMed
dbSNP
gnomAD
VAR_072979
rs371564610
CA9754226
334 V>M HH3; phenotype consistent with Kallmann syndrome [UniProt] Yes ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1425069359
RCV001137929
CA408166367
351 H>P Hypogonadotropic hypogonadism 3 with or without anosmia [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
VAR_072176
CA9754208
rs375036628
357 R>W Variant assessed as Somatic; 0.0 impact. HH3 [NCI-TCGA, UniProt] Yes ClinGen
UniProt
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs201023639
RCV001137927
RCV001759899
CA9754197
CA9754196
RCV001137928
RCV001759900
371 G>R Hypogonadotropic hypogonadism 3 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) [ClinVar, Ensembl] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs764073408
CA9754455
2 A>T No ClinGen
ExAC
gnomAD
rs758128077
CA9754454
3 A>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs758128077
CA408168605
3 A>V No ClinGen
ExAC
gnomAD
rs865860354
CA311179432
6 G>E No ClinGen
Ensembl
CA9754453
rs752490227
11 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9754452
rs147773715
RCV000863186
12 P>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9754451
rs759092882
13 N>K No ClinGen
ExAC
gnomAD
rs1226045380
CA408168540
13 N>T No ClinGen
gnomAD
rs1330236754
CA408168534
14 F>V No ClinGen
TOPMed
TCGA novel 16 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776389568
CA9754449
17 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA408168504
rs1327524485
18 Q>P No ClinGen
gnomAD
CA9754448
rs146062524
19 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760292647
CA9754447
21 A>T No ClinGen
ExAC
gnomAD
CA408168475
rs1420863056
23 S>P No ClinGen
gnomAD
rs773798644
CA9754446
23 S>Y No ClinGen
ExAC
gnomAD
CA9754443
rs774879752
24 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs774879752
CA9754444
24 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA408168433
rs1412520155
29 S>N No ClinGen
TOPMed
CA9754439
rs372654229
COSM4164765
30 Y>C kidney [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA311179275
rs267606007
32 D>N No ClinGen
TOPMed
gnomAD
rs777619161
CA9754437
33 Y>* No ClinGen
ExAC
gnomAD
CA408168400
rs1232678900
34 D>N No ClinGen
gnomAD
CA408168392
rs1431356735
35 L>F No ClinGen
TOPMed
rs752437197
CA9754435
37 M>I No ClinGen
ExAC
gnomAD
rs758358943
CA9754436
37 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA408168381
rs1414930601
37 M>V No ClinGen
TOPMed
CA9754433
rs754872933
40 D>N No ClinGen
ExAC
gnomAD
rs766072229
CA9754431
41 E>K No ClinGen
ExAC
gnomAD
CA311179221
rs920112026
42 D>Y No ClinGen
Ensembl
rs1194016064
CA408168312
46 T>N No ClinGen
gnomAD
CA9754425
rs548595273
47 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9754426
rs548595273
47 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM322839
CA9754427
rs768088473
47 R>W lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1326314892
CA408168277
52 A>G No ClinGen
TOPMed
CA408168260
rs770056339
54 I>M No ClinGen
ExAC
gnomAD
CA9754420
rs146963803
COSM1737360
55 V>I Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781268393
CA9754419
56 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs748078265
CA9754417
57 G>V No ClinGen
ExAC
CA9754416
rs778972307
58 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1362052727
CA408168238
59 A>S No ClinGen
gnomAD
TCGA novel 59 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 61 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9754414
rs753673244
62 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA408168209
rs1174074708
64 M>L No ClinGen
gnomAD
CA408168205
rs1600588787
64 M>T No ClinGen
Ensembl
CA408168207
rs1174074708
64 M>V No ClinGen
gnomAD
rs201898089
CA408168184
67 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA9754413
rs779533141
67 C>Y No ClinGen
ExAC
gnomAD
TCGA novel 68 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750150306
CA9754411
68 G>S No ClinGen
ExAC
gnomAD
CA311179025
rs893198630
68 G>V No ClinGen
Ensembl
CA408168173
rs564287592
69 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372651342
CA9754410
69 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764674615
CA9754408
70 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775950405
CA9754405
COSM1533982
71 N>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA408168159
rs1337872140
72 F>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1253383162
CA408168148
73 V>D No ClinGen
gnomAD
CA408168146
rs1229245355
74 F>L No ClinGen
TOPMed
gnomAD
rs1229245355
CA408168145
74 F>V No ClinGen
TOPMed
gnomAD
CA9754402
rs776908572
COSM1028229
76 A>T endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA408168127
rs1468315090
COSM248968
77 A>T pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1437885706
CA408168111
79 T>S No ClinGen
TOPMed
CA9754400
rs774093318
80 R>C No ClinGen
ExAC
gnomAD
rs768671137
CA9754398
COSM3785423
80 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs774093318
CA9754399
80 R>S No ClinGen
ExAC
gnomAD
rs748986790
CA9754397
81 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA311178912
rs748986790
81 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA311178914
rs748986790
81 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs756769389
CA9754394
86 N>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 86 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9754393
rs751081663
86 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 89 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9754389
rs765584064
91 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA311178838
rs267606006
94 N>S No ClinGen
Ensembl
rs375763923
CA9754387
96 A>T No ClinGen
ESP
ExAC
gnomAD
rs766596975
CA408168000
98 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs766596975
CA9754386
98 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs773364376
COSM724121
CA9754384
99 D>N lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1238325520
CA408167990
100 F>L No ClinGen
gnomAD
rs772095377
CA9754383
101 L>P No ClinGen
ExAC
rs749220846
CA9754382
103 A>S No ClinGen
ExAC
gnomAD
CA9754381
rs775634673
103 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9754380
rs769696958
104 I>V No ClinGen
ExAC
gnomAD
rs1324157232
CA408167935
108 P>L No ClinGen
gnomAD
COSM236548
CA9754379
rs780924864
109 F>L autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs756998275
CA9754377
110 E>Q No ClinGen
ExAC
gnomAD
rs777312812
CA408167906
112 D>E No ClinGen
ExAC
TOPMed
gnomAD
COSM125602
CA9754376
rs746450179
112 D>Y upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA408167894
rs1357242204
114 Y>C No ClinGen
TOPMed
TCGA novel 115 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA311178725
rs866478382
116 V>I No ClinGen
Ensembl
rs755272935
CA408167878
117 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs755272935
CA9754372
117 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9754373
rs142008002
117 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 118 Q>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408167873
rs1246947954
118 Q>R No ClinGen
TOPMed
rs940223117
CA311178684
124 G>S No ClinGen
Ensembl
rs1262451568
CA408167825
125 H>Y No ClinGen
gnomAD
rs987465905
CA311178678
126 V>A No ClinGen
Ensembl
rs200048973
CA408167819
126 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 128 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs367865350
CA9754366
129 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9754364
rs374021985
131 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408167774
rs1600588369
133 Y>S No ClinGen
Ensembl
CA311178618
rs149396342
135 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9754360
COSM1028227
rs746638938
135 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs746638938
CA408167762
135 R>L No ClinGen
ExAC
gnomAD
rs1195880083
CA408167756
136 T>I No ClinGen
gnomAD
CA408167753
rs1600588328
137 V>A No ClinGen
Ensembl
CA9754358
rs139259742
137 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM135866
rs374834120
CA311178574
138 S>F Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1191972976
CA408167741
139 L>P No ClinGen
gnomAD
rs1341324218
CA408167729
141 V>D No ClinGen
TOPMed
CA9754356
rs573392596
141 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs754392293
CA9754354
147 L>M No ClinGen
ExAC
gnomAD
rs370778947
CA9754353
148 A>T No ClinGen
ESP
ExAC
gnomAD
CA408167683
rs1282256826
149 I>V No ClinGen
TOPMed
rs368328895
CA9754352
151 I>M No ClinGen
ESP
ExAC
gnomAD
CA408167670
rs1345405168
151 I>V No ClinGen
gnomAD
rs768195924
CA9754338
155 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA9754336
COSM1165239
rs200887188
156 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 156 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408167617
rs1413706503
157 I>T No ClinGen
TOPMed
rs368732206
CA408167613
158 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9754333
rs781436398
159 H>N No ClinGen
ExAC
gnomAD
CA311167346
rs749920543
160 P>L No ClinGen
Ensembl
rs1296562290
CA408167595
161 L>S No ClinGen
TOPMed
CA9754332
rs757441748
162 K>* No ClinGen
ExAC
TOPMed
gnomAD
rs975343046
CA311167334
162 K>N No ClinGen
Ensembl
CA634331701
rs1439817754
164 R>* No ClinGen
gnomAD
CA311167321
rs751875578
164 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs751875578
CA9754331
164 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA408167577
rs1385068308
164 R>W No ClinGen
gnomAD
CA408167574
rs1213243746
165 M>L No ClinGen
gnomAD
rs549212197
CA311167305
167 Y>D No ClinGen
1000Genomes
gnomAD
rs997908057
CA311167302
168 Q>E No ClinGen
TOPMed
CA408167541
rs527771034
169 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA408167538
rs1401420410
170 A>S No ClinGen
TOPMed
gnomAD
rs760482505
CA9754326
170 A>V No ClinGen
ExAC
gnomAD
CA408167514
rs1391735710
174 I>T No ClinGen
gnomAD
COSM1263144
rs761425593
CA9754324
175 A>T Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748808249
CA9754322
176 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA408167497
rs1471050027
177 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9754321
rs770233566
179 M>I No ClinGen
ExAC
gnomAD
CA408167457
rs1222362721
COSM3547984
183 L>F Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA408167441
rs1282796125
185 A>V No ClinGen
gnomAD
rs868432159
CA311167191
187 P>S No ClinGen
Ensembl
rs1415204683
CA408167414
190 Y>C No ClinGen
TOPMed
rs576303711
CA9754316
190 Y>N No ClinGen
1000Genomes
ExAC
gnomAD
rs758488440
CA9754315
191 F>I No ClinGen
ExAC
gnomAD
CA408167400
rs960872927
192 A>E No ClinGen
gnomAD
CA311167135
rs960872927
192 A>V No ClinGen
gnomAD
TCGA novel 194 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA311167112
rs1033836905
194 E>K No ClinGen
Ensembl
rs554736651
CA9754314
195 T>M No ClinGen
1000Genomes
ExAC
gnomAD
CA9754312
rs755987251
196 V>I No ClinGen
ExAC
gnomAD
rs572126852
CA9754311
197 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1600577571
CA408167361
199 I>V No ClinGen
Ensembl
TCGA novel 200 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408167355
rs1600577560
200 V>I No ClinGen
Ensembl
rs1172763024
CA408167335
202 S>R No ClinGen
gnomAD
CA408167332
rs1600577547
203 Q>K No ClinGen
Ensembl
CA408167319
rs1191945491
204 E>D No ClinGen
gnomAD
CA408167326
rs1255165303
204 E>K No ClinGen
TOPMed
gnomAD
rs1240364075
CA408167304
206 I>M No ClinGen
gnomAD
rs1568569458
CA408167307
206 I>N No ClinGen
Ensembl
CA408167302
rs1038579531
207 F>I No ClinGen
TOPMed
rs773937171
CA9754307
207 F>S No ClinGen
ExAC
gnomAD
rs1038579531
CA311167063
207 F>V No ClinGen
TOPMed
rs1210187481
CA408167295
208 C>G No ClinGen
gnomAD
CA311167058
rs74315417
210 Q>P Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) [Ensembl] No ClinGen
TOPMed
gnomAD
rs1280128456
CA408167264
212 W>* No ClinGen
gnomAD
CA408167254
rs1282698960
214 V>L No ClinGen
TOPMed
gnomAD
rs1350448238
CA408167233
217 Q>K No ClinGen
gnomAD
CA9754305
rs762408043
218 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA9754304
rs774883653
218 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA9754303
rs553934141
219 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1051636587
CA408167199
221 K>N No ClinGen
TOPMed
gnomAD
rs1254922111
CA408167202
221 K>R No ClinGen
TOPMed
rs1190803620
CA408167193
222 S>F No ClinGen
TOPMed
CA408167197
rs1361056066
222 S>P No ClinGen
gnomAD
CA408167190
rs1568569424
223 Y>D No ClinGen
Ensembl
CA408167189
rs1324972718
223 Y>S No ClinGen
Ensembl
rs1172893710
CA408167180
224 F>S No ClinGen
gnomAD
CA9754302
rs746325344
225 L>P No ClinGen
ExAC
gnomAD
rs1177067067
CA408167171
226 F>V No ClinGen
TOPMed
gnomAD
rs1171039394
CA408167160
227 I>N No ClinGen
TOPMed
rs1428140954
CA408167152
228 F>S No ClinGen
gnomAD
CA9754300
rs771405878
229 G>V No ClinGen
ExAC
gnomAD
rs538606142
CA9754298
231 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs748456023
CA9754296
233 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA9754294
rs755153779
234 G>D No ClinGen
ExAC
gnomAD
rs935819272
CA311166942
235 P>S No ClinGen
Ensembl
CA9754293
rs750316537
236 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1219969494
CA408167091
238 T>I No ClinGen
gnomAD
CA311166924
rs932482448
240 T>I No ClinGen
TOPMed
gnomAD
CA408167065
COSM174367
rs1303201731
242 C>* large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA408167064
rs1303201731
242 C>W No ClinGen
TOPMed
gnomAD
TCGA novel 244 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1292174805
CA408167054
244 A>S No ClinGen
TOPMed
CA408167035
rs1461718981
247 S>P No ClinGen
gnomAD
rs1478200076
CA408167021
249 E>D No ClinGen
gnomAD
CA408167025
rs1245205482
249 E>K No ClinGen
TOPMed
rs1476479515
CA408167004
252 F>I No ClinGen
TOPMed
rs945720170
CA311166911
253 K>N No ClinGen
Ensembl
CA408166989
rs1415464915
254 A>T No ClinGen
gnomAD
CA408166976
rs1417178145
256 P>S No ClinGen
gnomAD
CA9754290
rs772347118
257 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs772347118
CA9754289
257 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1257370060
CA408166966
258 F>L No ClinGen
gnomAD
CA9754287
rs759139837
259 Q>K No ClinGen
ExAC
gnomAD
CA9754286
rs370738961
260 T>M Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA408166949
rs370738961
260 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1200077710
CA408166947
261 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9754283
rs148868355
264 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772609927
CA9754282
264 R>H No ClinGen
ExAC
gnomAD
CA9754280
rs143647776
266 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1165632
rs146729363
CA9754281
266 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781065670
CA9754277
268 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9754276
rs757207828
269 C>R No ClinGen
ExAC
gnomAD
CA9754274
rs777513102
270 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs777513102
CA9754275
270 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs777513102
CA408166893
270 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA9754272
rs374194956
271 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs188744190
CA9754271
272 K>T No ClinGen
1000Genomes
ExAC
gnomAD
rs779117079
CA9754270
273 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA9754268
rs369831329
274 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1272442694
CA408166854
277 L>F No ClinGen
gnomAD
CA408166836
rs1180199391
279 C>F No ClinGen
gnomAD
rs1262266798
CA408166832
280 I>V No ClinGen
TOPMed
rs761237584
CA9754267
282 T>A No ClinGen
ExAC
gnomAD
CA9754266
rs773923265
282 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA408166806
rs1357799030
284 Y>C No ClinGen
gnomAD
CA408166810
rs1568569285
284 Y>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs749276855
CA9754261
287 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA408166790
rs749276855
287 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA9754259
rs769901726
288 W>* No ClinGen
ExAC
gnomAD
rs780085295
CA9754260
288 W>R No ClinGen
ExAC
gnomAD
rs746940128
CA9754258
289 A>E No ClinGen
ExAC
gnomAD
rs758067611
CA9754256
290 P>L No ClinGen
ExAC
gnomAD
TCGA novel 290 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 293 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201311009
CA9754254
COSM163754
293 G>S breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 294 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9754253
rs754639802
295 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs753588291
CA9754252
295 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA311166564
rs754639802
295 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA408166730
rs1360362791
296 I>M No ClinGen
TOPMed
rs1382617920
CA408166735
296 I>V No ClinGen
gnomAD
rs139399061
CA408166729
297 V>L Hypogonadotropic hypogonadism 3 with or without anosmia (hh3) [Ensembl] No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM76063
rs1042038054
CA311166529
298 R>C ovary large_intestine Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs755743973
CA9754250
298 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372968364
CA9754249
299 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408166693
rs1241224140
302 P>L No ClinGen
TOPMed
CA311166502
rs199958585
302 P>S No ClinGen
ESP
TOPMed
gnomAD
CA9754246
rs774799224
304 V>M No ClinGen
ExAC
gnomAD
CA408166669
rs1351702997
306 V>G No ClinGen
TOPMed
CA9754244
rs199696443
306 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA408166647
rs1240563443
309 K>T No ClinGen
gnomAD
rs1346822828
CA408166639
310 H>L No ClinGen
TOPMed
gnomAD
CA9754242
rs769846786
311 Y>C No ClinGen
ExAC
gnomAD
CA9754241
rs745956475
312 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1381073853
CA408166624
313 T>A No ClinGen
gnomAD
CA9754239
rs772071476
313 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs200449168
CA311166456
315 F>I No ClinGen
1000Genomes
CA311166450
rs200449168
315 F>L No ClinGen
1000Genomes
rs1439763410
CA408166610
315 F>L No ClinGen
TOPMed
rs1434509032
CA408166597
317 V>A No ClinGen
gnomAD
CA9754238
rs778739474
317 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA9754237
rs778739474
317 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA408166589
rs754796297
319 E>* No ClinGen
ExAC
gnomAD
CA408166588
rs1170446948
319 E>A No ClinGen
gnomAD
CA408166580
rs1469839205
320 C>Y No ClinGen
gnomAD
rs779869864
CA408166567
322 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs779869864
CA9754234
COSM179145
322 A>T Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9754233
rs755621527
323 M>T No ClinGen
ExAC
gnomAD
rs1174707777
CA408166549
324 S>R No ClinGen
TOPMed
rs1403321022
CA408166541
325 N>K No ClinGen
TOPMed
rs749986762
CA9754232
328 I>V No ClinGen
ExAC
gnomAD
rs1568569186
CA408166507
330 T>S No ClinGen
Ensembl
CA408166482
rs371564610
CA408166481
334 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755562438
CA9754225
335 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs755562438
VAR_030967
CA9754224
335 T>M No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs755562438
CA408166474
335 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs973089809
CA311166342
338 N>K No ClinGen
Ensembl
CA9754222
rs759570423
339 N>S No ClinGen
ExAC
gnomAD
rs776752188
CA9754221
COSM163755
341 M>I breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs962871336
CA311166341
341 M>T No ClinGen
gnomAD
CA9754220
rs770957119
342 K>* No ClinGen
ExAC
gnomAD
rs748112834
CA408166429
342 K>M No ClinGen
ExAC
TOPMed
gnomAD
CA9754219
rs748112834
342 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA408166420
rs1374093067
343 Y>* No ClinGen
TOPMed
gnomAD
CA9754218
rs774213973
343 Y>N No ClinGen
ExAC
gnomAD
CA311166272
rs983344068
345 K>M No ClinGen
TOPMed
gnomAD
CA311166257
rs951686828
347 M>R No ClinGen
Ensembl
rs368145317
CA9754217
348 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368145317
CA311166256
348 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749102757
CA9754216
349 L>M No ClinGen
ExAC
gnomAD
rs749102757
CA408166381
349 L>V No ClinGen
ExAC
gnomAD
CA9754213
rs745562390
352 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs745562390
CA408166359
352 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA9754214
rs769594711
352 W>R No ClinGen
ExAC
gnomAD
rs1235576605
CA408166355
353 R>C No ClinGen
gnomAD
COSM117279
RCV001310452
CA9754212
rs576243101
353 R>H ovary Variant assessed as Somatic; 0.0001848 impact. pancreas central_nervous_system stomach [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA9754210
rs752089250
354 P>L No ClinGen
ExAC
gnomAD
rs1272592822
CA408166350
354 P>S No ClinGen
gnomAD
rs1466558251
CA408166339
356 Q>* No ClinGen
TOPMed
CA408166335
rs1258784930
356 Q>H No ClinGen
gnomAD
CA408166333
rs375036628
357 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9754207
rs753089596
357 R>Q Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759725558
CA9754205
361 S>T No ClinGen
ExAC
gnomAD
CA9754204
rs754076450
362 S>G No ClinGen
ExAC
gnomAD
CA408166292
rs1388799619
363 A>D No ClinGen
TOPMed
rs766469410
CA9754203
364 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA311166081
rs867274082
366 D>N No ClinGen
gnomAD
CA408166276
rs867274082
366 D>Y No ClinGen
gnomAD
rs762790551
CA9754199
370 N>S No ClinGen
ExAC
gnomAD
TCGA novel 371 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA311166041
rs866410846
373 P>A No ClinGen
Ensembl
rs866410846
CA311166029
373 P>S No ClinGen
Ensembl
rs1210137443
CA408166226
374 T>S No ClinGen
TOPMed
rs1400166987
CA408166220
375 T>R No ClinGen
gnomAD
CA9754192
rs778301898
377 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs758925950
CA9754191
378 V>A No ClinGen
ExAC
gnomAD
CA9754189
rs753244742
380 C>Y No ClinGen
ExAC
gnomAD
rs779246131
CA9754188
382 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA408166172
rs1444187780
382 R>S No ClinGen
gnomAD
rs147311278
CA9754187
385 K>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD

1 associated diseases with Q8NFJ6

[MIM: 244200]: Hypogonadotropic hypogonadism 3 with or without anosmia (HH3)

A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:17054399, ECO:0000269|PubMed:18559922, ECO:0000269|PubMed:18826963, ECO:0000269|PubMed:22927827, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:25077900}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in PROKR2 as well as in other HH-associated genes including KAL1, SEMA3A, PROK2, GNRH1 and FGFR1 (PubMed:17054399, PubMed:22927827, PubMed:23643382). {ECO:0000269|PubMed:17054399, ECO:0000269|PubMed:22927827, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:28858133}.

Without disease ID
  • A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:17054399, ECO:0000269|PubMed:18559922, ECO:0000269|PubMed:18826963, ECO:0000269|PubMed:22927827, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:25077900}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in PROKR2 as well as in other HH-associated genes including KAL1, SEMA3A, PROK2, GNRH1 and FGFR1 (PubMed:17054399, PubMed:22927827, PubMed:23643382). {ECO:0000269|PubMed:17054399, ECO:0000269|PubMed:22927827, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:28858133}.

1 regional properties for Q8NFJ6

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 63 - 358 IPR017452

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name Definition
G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
neuropeptide Y receptor activity Combining with neuropeptide Y to initiate a change in cell activity.

2 GO annotations of biological process

Name Definition
circadian rhythm Any biological process in an organism that recurs with a regularity of approximately 24 hours.
G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.

119 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2YDN1 GPR161 G protein-coupled receptor 161 Bos taurus (Bovine) PR
Q0GBZ5 HCRTR1 Orexin/Hypocretin receptor type 1 Bos taurus (Bovine) PR
Q17QD8 GPR37L1 G-protein coupled receptor 37-like 1 Bos taurus (Bovine) PR
P46626 ADRB3 Beta-3 adrenergic receptor Bos taurus (Bovine) PR
O46639 TRHR Thyrotropin-releasing hormone receptor Bos taurus (Bovine) PR
Q8SPN2 PROKR1 Prokineticin receptor 1 Bos taurus (Bovine) PR
B9VR26 CMLKR1 Chemerin-like receptor 1 Bos taurus (Bovine) PR
P18130 ADRA1A Alpha-1A adrenergic receptor Bos taurus (Bovine) PR
B4XF06 GPR39 G-protein coupled receptor 39 Bos taurus (Bovine) PR
Q8SPN1 PROKR2 Prokineticin receptor 2 Bos taurus (Bovine) PR
O18913 OPN1LW Long-wave-sensitive opsin 1 Felis catus (Cat) (Felis silvestris catus) PR
P28683 PRA1 Green-sensitive opsin Gallus gallus (Chicken) PR
Q9N298 HTR1A 5-hydroxytryptamine receptor 1A Pan troglodytes (Chimpanzee) PR
P08099 Rh2 Opsin Rh2 Drosophila melanogaster (Fruit fly) PR
P06002 ninaE Opsin Rh1 Drosophila melanogaster (Fruit fly) PR
Q4LBB9 Octbeta2R Octopamine receptor beta-2R Drosophila melanogaster (Fruit fly) PR
Q13585 GPR50 Melatonin-related receptor Homo sapiens (Human) PR
Q9BZJ6 GPR63 Probable G-protein coupled receptor 63 Homo sapiens (Human) PR
Q9H3N8 HRH4 Histamine H4 receptor Homo sapiens (Human) PR
P28336 NMBR Neuromedin-B receptor Homo sapiens (Human) PR
Q9Y5Y3 GPR45 Probable G-protein coupled receptor 45 Homo sapiens (Human) PR
P08913 ADRA2A Alpha-2A adrenergic receptor Homo sapiens (Human) PR
P41597 CCR2 C-C chemokine receptor type 2 Homo sapiens (Human) PR
P51681 CCR5 C-C chemokine receptor type 5 Homo sapiens (Human) PR
Q99788 CMKLR1 Chemerin-like receptor 1 Homo sapiens (Human) PR
P08908 HTR1A 5-hydroxytryptamine receptor 1A Homo sapiens (Human) PR
P32239 CCKBR Gastrin/cholecystokinin type B receptor Homo sapiens (Human) PR
O60883 GPR37L1 G-protein coupled receptor 37-like 1 Homo sapiens (Human) PR
Q8TDU9 RXFP4 Relaxin-3 receptor 2 Homo sapiens (Human) PR
P04000 OPN1LW Long-wave-sensitive opsin 1 Homo sapiens (Human) PR
Q6U736 OPN5 Opsin-5 Homo sapiens (Human) PR
P34972 CNR2 Cannabinoid receptor 2 Homo sapiens (Human) PR
P24530 EDNRB Endothelin receptor type B Homo sapiens (Human) PR
P35348 ADRA1A Alpha-1A adrenergic receptor Homo sapiens (Human) PR
Q6W5P4 NPSR1 Neuropeptide S receptor Homo sapiens (Human) PR
P61073 CXCR4 C-X-C chemokine receptor type 4 Homo sapiens (Human) PR
Q9BXC0 HCAR1 Hydroxycarboxylic acid receptor 1 Homo sapiens (Human) PR
P30556 AGTR1 Type-1 angiotensin II receptor Homo sapiens (Human) PR
Q15761 NPY5R Neuropeptide Y receptor type 5 Homo sapiens (Human) PR
Q8N6U8 GPR161 G-protein coupled receptor 161 Homo sapiens (Human) PR
Q6DWJ6 GPR139 Probable G-protein coupled receptor 139 Homo sapiens (Human) PR
P21462 FPR1 fMet-Leu-Phe receptor Homo sapiens (Human) PR
P35414 APLNR Apelin receptor Homo sapiens (Human) PR
P46091 CMKLR2 Chemerin-like receptor 2 Homo sapiens (Human) PR
P32745 SSTR3 Somatostatin receptor type 3 Homo sapiens (Human) PR
P41439 FOLR3 Folate receptor gamma Homo sapiens (Human) PR
O43613 HCRTR1 Orexin/Hypocretin receptor type 1 Homo sapiens (Human) PR
P30559 OXTR Oxytocin receptor Homo sapiens (Human) PR
Q8TCW9 PROKR1 Prokineticin receptor 1 Homo sapiens (Human) PR
P19973 Lsp1 Lymphocyte-specific protein 1 Mus musculus (Mouse) PR
O54799 Nmbr Neuromedin-B receptor Mus musculus (Mouse) PR
Q64264 Htr1a 5-hydroxytryptamine receptor 1A Mus musculus (Mouse) PR
P51675 Ccr1 C-C chemokine receptor type 1 Mus musculus (Mouse) PR
Q5U431 Gpr39 G-protein coupled receptor 39 Mus musculus (Mouse) PR
Q99JG2 Gpr37l1 G-protein coupled receptor 37-like 1 Mus musculus (Mouse) PR
P97295 Npy2r Neuropeptide Y receptor type 2 Mus musculus (Mouse) PR
O08786 Cckar Cholecystokinin receptor type A Mus musculus (Mouse) PR
P56481 Cckbr Gastrin/cholecystokinin type B receptor Mus musculus (Mouse) PR
P30731 Gpr83 G-protein coupled receptor 83 Mus musculus (Mouse) PR
P97468 Cmklr1 Chemerin-like receptor 1 Mus musculus (Mouse) PR
P21761 Trhr Thyrotropin-releasing hormone receptor Mus musculus (Mouse) PR
Q5QD16 Taar3 Trace amine-associated receptor 3 Mus musculus (Mouse) PR
P97292 Hrh2 Histamine H2 receptor Mus musculus (Mouse) PR
Q9EQQ3 Gpr63 Probable G-protein coupled receptor 63 Mus musculus (Mouse) PR
Q924H0 Npffr2 Neuropeptide FF receptor 2 Mus musculus (Mouse) PR
P34971 Adrb1 Beta-1 adrenergic receptor Mus musculus (Mouse) PR
Q91ZY2 Hrh4 Histamine H4 receptor Mus musculus (Mouse) PR
O88416 Gpr33 Probable G-protein coupled receptor 33 Mus musculus (Mouse) PR
Q8K087 Cmklr2 Chemerin-like receptor 2 Mus musculus (Mouse) PR
P70658 Cxcr4 C-X-C chemokine receptor type 4 Mus musculus (Mouse) PR
Q9WV08 Aplnr Apelin receptor Mus musculus (Mouse) PR
P97718 Adra1a Alpha-1A adrenergic receptor Mus musculus (Mouse) PR
Q8BZP8 Npsr1 Neuropeptide S receptor Mus musculus (Mouse) PR
P58308 Hcrtr2 Orexin receptor type 2 Mus musculus (Mouse) PR
Q7TQP3 Gpr119 Glucose-dependent insulinotropic receptor Mus musculus (Mouse) PR
Q8BGE9 Rxfp3 Relaxin-3 receptor 1 Mus musculus (Mouse) PR
Q6VZZ7 Opn5 Opsin-5 Mus musculus (Mouse) PR
Q8CIM5 Gpr84 G-protein coupled receptor 84 Mus musculus (Mouse) PR
P25962 Adrb3 Beta-3 adrenergic receptor Mus musculus (Mouse) PR
Q80UC8 Gpr139 Probable G-protein coupled receptor 139 Mus musculus (Mouse) PR
P0C5I1 Gpr25 Probable G-protein coupled receptor 25 Mus musculus (Mouse) PR
P47936 Cnr2 Cannabinoid receptor 2 Mus musculus (Mouse) PR
Q5QD13 Taar6 Trace amine-associated receptor 6 Mus musculus (Mouse) PR
P35846 Folr1 Folate receptor alpha Mus musculus (Mouse) PR
P58307 Hcrtr1 Orexin/Hypocretin receptor type 1 Mus musculus (Mouse) PR
Q8C131 Hcar1 Hydroxycarboxylic acid receptor 1 Mus musculus (Mouse) PR
Q9EQQ4 Gpr45 Probable G-protein coupled receptor 45 Mus musculus (Mouse) PR
B2RPY5 Gpr161 G-protein coupled receptor 161 Mus musculus (Mouse) PR
Q8K458 Prokr2 Prokineticin receptor 2 Mus musculus (Mouse) PR
Q764M9 CXCR4 C-X-C chemokine receptor type 4 Sus scrofa (Pig) PR
Q9EQD2 Npffr2 Neuropeptide FF receptor 2 Rattus norvegicus (Rat) PR
O08565 Cxcr4 C-X-C chemokine receptor type 4 Rattus norvegicus (Rat) PR
Q01717 Trhr Thyrotropin-releasing hormone receptor Rattus norvegicus (Rat) PR
P30936 Sstr3 Somatostatin receptor type 3 Rattus norvegicus (Rat) PR
Q9JHG3 Aplnr Apelin receptor Rattus norvegicus (Rat) PR
P43140 Adra1a Alpha-1A adrenergic receptor Rattus norvegicus (Rat) PR
P19327 Htr1a 5-hydroxytryptamine receptor 1A Rattus norvegicus (Rat) PR
P56719 Hcrtr2 Orexin receptor type 2 Rattus norvegicus (Rat) PR
P28564 Htr1b 5-hydroxytryptamine receptor 1B Rattus norvegicus (Rat) PR
P56718 Hcrtr1 Orexin/Hypocretin receptor type 1 Rattus norvegicus (Rat) PR
P28647 Adora3 Adenosine receptor A3 Rattus norvegicus (Rat) PR
P25102 Hrh2 Histamine H2 receptor Rattus norvegicus (Rat) PR
P23944 Adra1d Alpha-1D adrenergic receptor Rattus norvegicus (Rat) PR
Q5QD24 Taar3 Trace amine-associated receptor 3 Rattus norvegicus (Rat) PR
P0C0W8 Gpr139 Probable G-protein coupled receptor 139 Rattus norvegicus (Rat) PR
P35370 Oprl1 Nociceptin receptor Rattus norvegicus (Rat) PR
P46090 Cmklr2 Chemerin-like receptor 2 Rattus norvegicus (Rat) PR
Q8R415 Prokr2 Prokineticin receptor 2 Rattus norvegicus (Rat) PR
O97664 CMKLR2 Chemerin-like receptor 2 Macaca mulatta (Rhesus macaque) PR
O97666 APLNR Apelin receptor Macaca mulatta (Rhesus macaque) PR
Q56H79 NPSR1 Neuropeptide S receptor Macaca mulatta (Rhesus macaque) PR
Q18904 npr-8 Probable G-protein coupled receptor npr-8 Caenorhabditis elegans PR
Q09388 gar-2 Muscarinic acetylcholine receptor gar-2 Caenorhabditis elegans PR
B3DM66 gpr161 G-protein coupled receptor 161 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q9W6A6 opn1mw4 Green-sensitive opsin-4 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q9W6A5 opn1mw1 Green-sensitive opsin-1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYM7 opn1mw3 Green-sensitive opsin-3 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYN0 opn1lw2 Red-sensitive opsin-2 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q90X46 gpr161 G-protein coupled receptor 161 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MAAQNGNTSF TPNFNPPQDH ASSLSFNFSY GDYDLPMDED EDMTKTRTFF AAKIVIGIAL
70 80 90 100 110 120
AGIMLVCGIG NFVFIAALTR YKKLRNLTNL LIANLAISDF LVAIICCPFE MDYYVVRQLS
130 140 150 160 170 180
WEHGHVLCAS VNYLRTVSLY VSTNALLAIA IDRYLAIVHP LKPRMNYQTA SFLIALVWMV
190 200 210 220 230 240
SILIAIPSAY FATETVLFIV KSQEKIFCGQ IWPVDQQLYY KSYFLFIFGV EFVGPVVTMT
250 260 270 280 290 300
LCYARISREL WFKAVPGFQT EQIRKRLRCR RKTVLVLMCI LTAYVLCWAP FYGFTIVRDF
310 320 330 340 350 360
FPTVFVKEKH YLTAFYVVEC IAMSNSMINT VCFVTVKNNT MKYFKKMMLL HWRPSQRGSK
370 380
SSADLDLRTN GVPTTEEVDC IRLK