P29371
PR
Gene name |
TACR3 (NK3R, TAC3R) |
Protein name |
Neuromedin-K receptor |
Names |
NKR, NK-3 receptor, NK-3R, Neurokinin B receptor, Tachykinin receptor 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6870 |
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 P29371
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P29371-F1 | Predicted | AlphaFoldDB |
448 variants for P29371
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs886058977 CA10619823 RCV000303219 |
38 | E>D | Hypogonadotropic hypogonadism 11 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_069177 RCV000030897 CA130193 RCV000059784 rs121918124 |
93 | G>D | Hypogonadotropic hypogonadism 11 with or without anosmia Variant assessed as Somatic; impact. HH11; unequivocal evidence of impaired receptor signaling [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
| VAR_072976 | 137 | F>V | HH11 [UniProt] | Yes | UniProt |
|
RCV000156946 rs201195175 CA185873 |
171 | A>P | Delayed puberty [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs727505375 CA185892 COSM1049719 RCV000156966 |
208 | W>* | Variant assessed as Somatic; 0.0 impact. endometrium Hypogonadotropic hypogonadism 7 with or without anosmia [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1195516345 RCV001147439 CA357963939 |
230 | R>C | Hypogonadotropic hypogonadism 11 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs764659822 CA210038 RCV000200961 |
231 | T>I | Hypogonadotropic hypogonadism 11 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886058976 RCV000361520 CA10619806 |
235 | V>M | Hypogonadotropic hypogonadism 11 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3940689 CA3031074 rs200991185 RCV000297383 |
246 | T>I | oesophagus Hypogonadotropic hypogonadism 11 with or without anosmia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs397515483 CA144873 RCV000056320 |
256 | Y>H | Hypogonadotropic hypogonadism 11 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs144292455 RCV000727615 RCV000056319 CA144871 |
275 | W>* | Hypogonadotropic hypogonadism 11 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000612388 RCV000514260 VAR_049422 RCV001145492 rs2276973 CA3031044 |
286 | K>R | Hypogonadotropic hypogonadism 11 with or without anosmia may contribute to hypogonadotropic hypogonadism in patients carrying disease-causing mutations in FGFR1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000485622 rs201088165 CA3031013 RCV001145490 |
306 | M>I | Variant assessed as Somatic; 0.0 impact. Hypogonadotropic hypogonadism 11 with or without anosmia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10619803 rs886058975 RCV000355689 |
306 | M>T | Isolated GnRH Deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA103186483 VAR_072977 rs200148989 |
346 | M>V | HH11 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
VAR_069178 rs121918125 RCV000030898 RCV000059783 CA130194 |
353 | P>S | Hypogonadotropic hypogonadism 11 with or without anosmia HH11; unequivocal evidence of impaired receptor signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_069963 COSM585267 CA3030959 rs150288991 |
364 | R>Q | lung Variant assessed as Somatic; 4.637e-05 impact. HH11; the patient also carries a mutation in FGFR1 [Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201828791 RCV001149824 RCV001565335 CA3030928 |
409 | M>V | Hypogonadotropic hypogonadism 11 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000891874 rs143073792 RCV000351253 RCV001821051 CA3030923 |
416 | N>Y | Hypogonadotropic hypogonadism 11 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM167819 RCV000764521 RCV000522226 CA3030910 rs200736098 |
430 | T>M | lung Variant assessed as Somatic; 0.0 impact. large_intestine Hypogonadotropic hypogonadism 11 with or without anosmia [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA3030903 RCV001149823 RCV000713763 rs146482011 |
441 | R>C | Hypogonadotropic hypogonadism 11 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001815398 RCV000502499 rs17033889 RCV001148270 CA3030900 |
449 | A>S | Hypogonadotropic hypogonadism 11 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001149821 CA3030899 VAR_049423 rs17033889 RCV000954909 |
449 | A>T | Hypogonadotropic hypogonadism 11 with or without anosmia may contribute to hypogonadotropic hypogonadism in patients carrying disease-causing mutations in SPRY4 or KAL1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA103202992 rs941586657 |
2 | A>S | No |
ClinGen Ensembl |
|
|
CA3031203 rs754200998 |
3 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357965350 rs1477783563 |
5 | P>Q | No |
ClinGen gnomAD |
|
|
CA3031202 rs764368186 |
5 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775634973 CA3031200 |
9 | T>I | No |
ClinGen ExAC |
|
|
rs1447990156 CA357965317 |
10 | W>* | No |
ClinGen gnomAD |
|
|
rs1289393355 CA357965305 |
12 | D>N | No |
ClinGen gnomAD |
|
|
CA357965297 rs200565287 |
13 | G>R | No |
ClinGen TOPMed |
|
|
CA103202991 rs200565287 |
13 | G>W | No |
ClinGen TOPMed |
|
|
CA357965289 rs1208343077 |
14 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 17 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357965266 rs1163815753 |
18 | G>D | No |
ClinGen TOPMed |
|
|
CA357965247 COSM732055 rs1233777799 |
21 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA357965249 rs1233777799 |
21 | A>T | No |
ClinGen gnomAD |
|
|
CA3031198 rs759624453 |
22 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA357965235 rs1578272606 |
23 | N>T | No |
ClinGen Ensembl |
|
|
rs199808532 CA103202990 |
24 | L>P | No |
ClinGen Ensembl |
|
|
CA357965229 rs1412684483 |
24 | L>V | No |
ClinGen TOPMed |
|
|
CA357965226 rs1578272601 |
25 | T>P | No |
ClinGen Ensembl |
|
|
CA103202988 rs1008776547 |
27 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM3775457 CA357965210 rs1008776547 |
27 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1326872854 CA357965208 |
28 | L>V | No |
ClinGen gnomAD |
|
|
rs201437953 CA103202987 |
29 | A>G | No |
ClinGen Ensembl |
|
|
CA103202986 rs201437953 |
29 | A>V | No |
ClinGen Ensembl |
|
|
rs538867830 CA3031197 |
30 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3031195 rs376276282 CA103202985 |
31 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376276282 CA3031194 |
31 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA103202984 rs1044531754 |
32 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs769653808 CA3031193 |
33 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs769653808 CA357965183 |
33 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1465522673 CA357965177 |
34 | T>M | No |
ClinGen gnomAD |
|
|
rs747807151 CA3031192 |
35 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs950254837 CA103202982 |
35 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs950254837 CA103202983 |
35 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200591582 CA103202981 |
36 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1158054702 CA357965173 |
36 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754469289 CA3031190 |
37 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1196940765 CA357965162 |
38 | E>Q | No |
ClinGen gnomAD |
|
|
CA357965149 rs1462471522 |
40 | G>R | No |
ClinGen TOPMed |
|
|
CA3031189 rs746506217 |
41 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA3031188 rs779330311 |
41 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs757779795 CA3031187 |
43 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs898807947 CA103202980 |
44 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1236713949 CA357965121 |
45 | L>V | No |
ClinGen TOPMed |
|
|
CA357965110 rs181951458 |
46 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 46 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407988538 CA357965107 |
47 | Q>E | No |
ClinGen TOPMed |
|
|
rs764458200 CA3031185 |
48 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764458200 CA357965096 |
48 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159053906 CA357965085 |
50 | N>S | No |
ClinGen TOPMed |
|
|
rs752952225 CA3031183 |
51 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs767700979 CA3031182 |
51 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs759571715 CA3031181 |
52 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA103202979 rs868017808 |
52 | S>F | No |
ClinGen Ensembl |
|
|
rs766282332 CA3031179 |
54 | S>C | No |
ClinGen ExAC TOPMed |
|
|
CA357965064 rs766282332 |
54 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA357965067 rs1411017277 |
54 | S>P | No |
ClinGen gnomAD |
|
|
rs762959917 CA3031178 |
55 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773215521 CA3031177 |
57 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1469542150 CA357965043 |
58 | L>P | No |
ClinGen gnomAD |
|
|
CA103202976 rs201151576 |
59 | G>E | No |
ClinGen Ensembl |
|
|
CA3031175 rs560949346 |
59 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3031173 rs530527574 |
61 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3031174 rs200213663 |
61 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs746568671 CA3031172 |
63 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3031171 rs779604122 |
64 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA357965009 rs1239058163 |
65 | P>R | No |
ClinGen gnomAD |
|
|
CA103202975 rs201876311 |
65 | P>S | No |
ClinGen gnomAD |
|
|
CA3031170 rs757791601 |
66 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA357964995 rs1578272457 |
68 | S>P | No |
ClinGen Ensembl |
|
|
rs1578272452 CA357964987 |
69 | Q>P | No |
ClinGen Ensembl |
|
|
CA357964970 rs1443495752 |
71 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 71 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578272446 CA357964975 |
71 | W>R | No |
ClinGen Ensembl |
|
|
rs1359069507 CA357964967 |
72 | A>T | No |
ClinGen gnomAD |
|
|
CA3031169 rs749802263 |
73 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA103202974 rs913414146 |
73 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357964955 rs1277580705 |
74 | L>V | No |
ClinGen TOPMed |
|
|
rs756497125 CA3031167 |
75 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs753025909 CA3031166 |
76 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs149706734 CA103202973 |
77 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs767694452 CA3031165 |
78 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868506729 CA357964925 |
78 | F>L | No |
ClinGen gnomAD |
|
|
CA357964929 rs767694452 |
78 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3031164 rs755212834 |
79 | V>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 80 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482997537 CA357964906 |
81 | P>R | No |
ClinGen gnomAD |
|
|
CA357964899 rs1485933119 |
82 | S>F | No |
ClinGen gnomAD |
|
|
COSM1426196 CA357964887 rs1208727441 |
84 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 84 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208727441 CA357964889 |
84 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 86 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3031162 rs766483670 |
88 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1430824648 CA357964842 |
91 | A>E | No |
ClinGen TOPMed |
|
|
rs1308753236 CA357964845 |
91 | A>T | No |
ClinGen gnomAD |
|
|
rs765245410 CA3031158 |
92 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs121918124 CA103202970 |
93 | G>A | No |
ClinGen Ensembl |
|
|
CA3031156 rs776564426 |
94 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139574028 CA3031155 |
95 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746690318 CA3031154 |
97 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200217786 CA3031150 |
100 | V>G | No |
ClinGen ExAC |
|
|
rs1409477716 CA357964795 |
100 | V>I | No |
ClinGen TOPMed |
|
|
rs201808835 CA3031148 |
101 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 101 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA103202968 rs866456567 |
102 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA357964771 rs1411794592 |
104 | L>I | No |
ClinGen gnomAD |
|
|
CA357964766 rs1347482096 |
104 | L>R | No |
ClinGen TOPMed |
|
|
CA357964770 rs1411794592 |
104 | L>V | No |
ClinGen gnomAD |
|
|
CA357964761 rs1223972325 |
105 | I>T | No |
ClinGen TOPMed |
|
|
rs755230221 CA3031145 |
106 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA103202966 rs200619854 |
110 | I>V | No |
ClinGen Ensembl |
|
|
CA103202965 rs866860562 |
112 | A>T | No |
ClinGen Ensembl |
|
|
rs199859158 CA103202964 |
113 | H>Y | No |
ClinGen Ensembl |
|
|
rs201886341 CA3031143 |
115 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201886341 CA103202963 |
115 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1049725 rs1215592649 CA357964698 |
115 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA357964696 rs1215592649 |
115 | R>L | No |
ClinGen gnomAD |
|
|
CA357964687 TCGA novel rs1482498769 |
116 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs1484792199 CA357964690 |
116 | M>R | No |
ClinGen gnomAD |
|
|
rs758599840 CA3031142 |
118 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3031140 rs765333279 |
121 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761830661 CA3031139 |
122 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761830661 CA357964655 |
122 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1270734634 CA357964638 |
124 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1480518242 CA357964636 |
124 | L>P | No |
ClinGen TOPMed |
|
|
rs753772840 CA3031138 |
125 | V>M | No |
ClinGen ExAC |
|
|
CA357964628 rs1377606943 |
126 | N>D | No |
ClinGen TOPMed |
|
|
CA3031137 rs201733523 |
127 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA103202960 rs200691126 |
131 | D>E | No |
ClinGen ESP gnomAD |
|
|
rs775234670 CA3031135 |
131 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357964573 rs1429283325 |
134 | M>I | No |
ClinGen TOPMed |
|
|
rs771605106 CA3031134 |
134 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA103202958 rs987290165 |
134 | M>V | No |
ClinGen TOPMed |
|
|
CA3031133 rs759110392 |
135 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3031132 rs773834697 |
135 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3031131 rs770367777 |
140 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 141 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3031130 rs748655134 |
143 | F>V | No |
ClinGen ExAC |
|
|
CA3031129 rs781511002 |
144 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA103202956 rs199586035 |
145 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3031127 rs747312740 |
146 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780364097 CA3031126 COSM1228389 |
146 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201964346 CA103202955 |
147 | L>R | No |
ClinGen Ensembl |
|
|
CA357964486 rs1250546338 |
148 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578272223 RCV001009027 |
149 | S>missing | No |
ClinVar dbSNP |
|
|
rs750591352 CA3031124 |
149 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357964477 rs1387259014 |
149 | S>R | No |
ClinGen gnomAD |
|
|
CA357964474 rs1334964121 |
150 | E>* | No |
ClinGen gnomAD |
|
|
rs1334964121 CA357964476 |
150 | E>K | No |
ClinGen gnomAD |
|
|
CA357964442 rs139447026 |
154 | G>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs139447026 CA103202954 |
154 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200656206 CA103202953 |
155 | A>T | No |
ClinGen TOPMed |
|
|
CA3031123 rs779148796 |
156 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3031121 rs574875874 |
159 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1450343178 CA357964408 |
159 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3031120 rs763892946 |
161 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA103202951 rs994724961 |
164 | F>S | No |
ClinGen TOPMed |
|
|
CA103202950 rs955149687 |
166 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3031119 rs760572287 |
167 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA103202949 rs201195175 |
171 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3031116 rs759196574 |
171 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs199505146 CA103202947 |
172 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201237591 CA3031115 |
172 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357964308 rs1453625322 |
174 | Y>* | No |
ClinGen gnomAD |
|
|
CA3031114 rs770457647 |
174 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357964314 rs770457647 |
174 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388691729 CA357964299 |
176 | M>L | No |
ClinGen TOPMed |
|
|
rs777243337 CA3031113 COSM1567073 |
177 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777243337 CA3031112 |
177 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3031111 rs769013038 |
178 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA103202946 rs769013038 |
178 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357964288 rs769013038 COSM1049721 |
178 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3031109 rs775705606 |
180 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357964273 COSM121027 rs775705606 |
180 | A>V | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA357964271 rs1321909515 |
181 | V>L | No |
ClinGen TOPMed |
|
|
CA357964263 rs1447030348 |
182 | D>A | No |
ClinGen gnomAD |
|
|
rs879591686 CA103202945 |
183 | R>K | No |
ClinGen Ensembl |
|
|
rs765992914 CA357964242 |
183 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA357964214 rs1307607893 |
187 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762563008 CA3031095 |
188 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1373325478 CA357964200 |
189 | D>E | No |
ClinGen gnomAD |
|
|
rs201823274 CA103195297 |
189 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs202139429 CA3031094 |
190 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940763995 CA103195296 |
192 | K>N | No |
ClinGen Ensembl |
|
|
CA3031091 rs776075997 |
193 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746189040 CA3031089 |
194 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1187771911 CA357964172 |
194 | R>K | No |
ClinGen gnomAD |
|
|
rs1255186782 CA357964162 |
196 | S>P | No |
ClinGen TOPMed |
|
|
CA357964153 rs1560825099 |
197 | A>G | No |
ClinGen Ensembl |
|
|
rs1474530864 CA357964145 |
199 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 200 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3031087 rs771252157 |
202 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA357964119 rs1207179997 |
203 | V>I | No |
ClinGen gnomAD |
|
|
CA3031083 rs748064766 |
204 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353512116 CA357964105 |
205 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA103195294 rs899342782 |
205 | G>R | No |
ClinGen gnomAD |
|
|
rs1578246429 CA357964095 |
206 | S>R | No |
ClinGen Ensembl |
|
|
rs1252039879 CA357964088 |
207 | I>M | No |
ClinGen TOPMed |
|
|
CA357964093 rs1578246426 |
207 | I>V | No |
ClinGen Ensembl |
|
|
COSM1049719 rs1228465213 CA357964082 |
208 | W>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA357964072 COSM1049718 rs1415160059 |
210 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 211 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754815911 CA3031081 |
213 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1402088713 CA357964047 |
214 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3031080 rs751324306 |
216 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs748556282 CA103195293 |
218 | Q>K | No |
ClinGen Ensembl |
|
|
rs1459457982 CA357964006 |
220 | L>F | No |
ClinGen gnomAD |
|
|
CA357963989 rs1420611600 |
222 | S>Y | No |
ClinGen gnomAD |
|
|
CA357963964 rs1166376230 |
226 | V>F | No |
ClinGen gnomAD |
|
|
rs201587477 CA3031079 |
227 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1002783652 CA103195292 |
229 | G>C | No |
ClinGen Ensembl |
|
|
CA3031077 COSM2952493 rs368975103 |
230 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1252404725 CA357963936 |
231 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1337124654 CA357963921 |
233 | C>S | No |
ClinGen gnomAD |
|
|
CA3031076 rs761347360 |
234 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA103195290 rs369694496 |
240 | G>V | No |
ClinGen Ensembl |
|
|
CA357963867 rs1560825017 |
241 | P>H | No |
ClinGen Ensembl |
|
|
rs370272223 CA103195289 |
241 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs1578246382 CA357963842 |
244 | H>Q | No |
ClinGen Ensembl |
|
|
rs1464819488 CA357963846 |
244 | H>Y | No |
ClinGen TOPMed |
|
|
CA357963839 rs1310109805 |
245 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 247 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357963805 rs1374236686 |
248 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA357963804 rs1374236686 |
248 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs148732080 CA3031058 |
249 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3031057 rs758147513 |
251 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs61733575 CA103195082 |
253 | I>T | No |
ClinGen Ensembl |
|
|
rs201573005 CA357963764 |
255 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201573005 CA3031056 |
255 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 256 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3031054 rs377430416 |
257 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377430416 CA3031055 |
257 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000429514 rs1057524840 CA16604652 |
259 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs200604292 CA3031053 |
260 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA357963725 rs1375233654 |
261 | L>F | No |
ClinGen gnomAD |
|
|
CA103195078 rs1023821281 |
262 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA103195076 rs896209676 |
264 | G>V | No |
ClinGen Ensembl |
|
|
CA357963697 rs1419280362 |
265 | I>T | No |
ClinGen TOPMed |
|
|
rs1455770592 CA357963700 |
265 | I>V | No |
ClinGen gnomAD |
|
|
rs780755925 CA3031051 |
266 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA103195075 rs199777003 |
269 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1475154807 CA357963674 |
269 | I>V | No |
ClinGen TOPMed |
|
|
rs752041544 CA3031050 |
270 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA357963658 rs1483228039 |
272 | I>V | No |
ClinGen gnomAD |
|
|
rs766681533 CA3031048 |
274 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3031047 rs773353516 |
275 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA3031046 COSM233537 rs770025393 |
278 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA357963610 rs1560824263 |
279 | I>N | No |
ClinGen Ensembl |
|
| TCGA novel | 281 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382984270 CA357963584 |
283 | T>N | No |
ClinGen TOPMed |
|
|
rs902806637 CA103195074 |
287 | Y>S | No |
ClinGen TOPMed |
|
|
CA357963544 rs1272025929 |
288 | H>Q | No |
ClinGen gnomAD |
|
|
rs1410975428 CA357963547 |
288 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 289 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 289 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA103195073 rs1043921427 |
290 | Q>* | No |
ClinGen gnomAD |
|
|
CA103195071 rs267599973 |
293 | A>T | No |
ClinGen Ensembl |
|
|
rs376656496 CA103186490 |
298 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3031017 rs376656496 RCV000500874 |
298 | V>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777530972 COSM732058 CA3031016 CA103186489 |
300 | M>I | Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA357963434 rs1318356569 |
302 | I>V | No |
ClinGen TOPMed |
|
|
rs375625407 CA3031015 |
303 | I>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA357963412 rs1356233917 |
305 | V>A | No |
ClinGen gnomAD |
|
|
rs1208774798 CA357963416 |
305 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1208774798 CA357963415 |
305 | V>I | No |
ClinGen gnomAD |
|
|
rs747673482 CA3031014 |
306 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357963404 rs1232797084 |
307 | T>A | No |
ClinGen TOPMed |
|
|
rs1322632631 CA357963389 |
309 | A>P | No |
ClinGen gnomAD |
|
|
CA357963388 rs1322632631 |
309 | A>S | No |
ClinGen gnomAD |
|
|
rs750829984 CA3031011 |
310 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1331565532 CA357963372 |
311 | C>F | No |
ClinGen TOPMed |
|
|
CA357963368 rs1226941286 |
312 | W>R | No |
ClinGen TOPMed |
|
|
CA357963353 rs1212979349 |
314 | P>A | No |
ClinGen gnomAD |
|
|
CA3031009 rs757567832 |
320 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs369387303 CA3031008 |
322 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357963290 rs1392386147 |
323 | A>E | No |
ClinGen gnomAD |
|
|
CA103186487 rs200159912 |
324 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200159912 CA3031006 |
324 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357963264 rs1368777199 |
327 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3031004 rs767418116 |
329 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1391626331 CA357963233 |
331 | W>* | No |
ClinGen gnomAD |
|
|
CA357963205 rs1236264934 |
335 | Q>* | No |
ClinGen TOPMed |
|
|
CA357963182 rs1216055067 |
338 | Y>C | No |
ClinGen gnomAD |
|
|
rs377081134 CA3031001 |
338 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357963172 rs1398147371 |
340 | A>P | No |
ClinGen gnomAD |
|
|
rs749064480 CA3031000 |
341 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA103186485 rs200515937 |
341 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1412232083 CA357963163 |
341 | S>R | No |
ClinGen TOPMed |
|
|
rs773050241 CA3030999 |
342 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs769558100 CA3030998 |
343 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA3030997 rs372292240 |
343 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560797387 CA357963144 |
344 | L>P | No |
ClinGen Ensembl |
|
|
rs1414860235 CA357963130 |
346 | M>I | No |
ClinGen TOPMed |
|
|
CA357963126 rs1368821365 |
347 | S>C | No |
ClinGen gnomAD |
|
|
rs754389139 CA3030995 |
349 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3030996 rs139659862 |
349 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779352098 CA3030993 |
350 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357963096 rs1460265683 |
351 | Y>* | No |
ClinGen gnomAD |
|
|
CA357963085 rs121918125 |
353 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357963074 rs1453454464 |
355 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357963073 rs1453454464 |
355 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 360 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3030960 rs199740086 |
364 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA103186308 rs150288991 |
364 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1335509545 CA357962984 |
366 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3030958 rs766492572 |
366 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413923972 CA357962979 |
367 | F>V | No |
ClinGen gnomAD |
|
|
CA357962973 rs1353399295 |
368 | K>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1275133219 CA357962965 |
369 | R>G | No |
ClinGen gnomAD |
|
|
rs762990793 CA3030957 |
369 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs548868893 CA103186306 |
371 | F>L | No |
ClinGen 1000Genomes |
|
|
CA357962944 rs1383571483 |
372 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM176372 rs765147223 CA3030955 |
372 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1458405524 CA357962939 |
373 | W>* | No |
ClinGen gnomAD |
|
|
CA103186305 rs762580989 |
373 | W>G | No |
ClinGen TOPMed |
|
|
rs375325379 CA3030954 |
374 | C>W | No |
ClinGen ESP ExAC TOPMed |
|
|
rs867125460 CA103186304 |
375 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3030953 rs776385419 |
377 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357962913 rs776385419 |
377 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200191397 CA103186303 |
378 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760288417 CA3030951 |
378 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs200191397 CA3030952 |
378 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357962904 rs200191397 |
378 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774974236 CA3030950 |
379 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3030949 rs771500112 |
380 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs778217248 CA3030947 COSM3945834 |
381 | S>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 381 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3030946 rs202171658 |
382 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3030945 rs748442670 |
384 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA357962865 rs1578215198 |
384 | E>D | No |
ClinGen Ensembl |
|
|
CA357962870 rs1174837760 |
384 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs569477769 CA3030944 |
385 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3030943 rs755152764 |
386 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357962858 rs755152764 |
386 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000503942 rs1353918699 CA357962849 |
387 | L>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 387 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751765989 CA3030942 |
388 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3030940 rs758503119 |
391 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs772686551 CA103186302 |
391 | R>M | No |
ClinGen Ensembl |
|
|
CA103186301 rs937710902 |
391 | R>S | No |
ClinGen gnomAD |
|
|
CA554051566 rs1436642277 |
392 | F>* | No |
ClinGen gnomAD |
|
|
CA3030939 rs750417700 |
392 | F>L | No |
ClinGen ExAC TOPMed |
|
|
rs201938668 CA357962791 |
396 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3030936 rs201938668 |
396 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3030938 rs201065494 |
396 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 397 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357962781 rs1333780583 |
398 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA103186300 rs763871412 |
398 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs763871412 CA3030935 |
398 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 399 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238193715 CA357962765 |
400 | M>T | No |
ClinGen TOPMed |
|
|
CA3030933 rs140096030 |
400 | M>V | No |
ClinGen ESP ExAC |
|
|
CA357962747 rs1164167620 |
402 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1164167620 CA357962749 |
402 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs553885967 CA3030931 COSM1131312 |
403 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200172521 CA3030930 |
407 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs770192343 CA3030929 |
408 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3030927 rs776866236 |
409 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3030926 rs151158699 |
412 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3030925 rs747257856 |
413 | F>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1291801 rs1338583641 CA357962669 |
414 | D>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 415 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780383548 CA3030924 |
415 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA357962659 rs1365226651 |
416 | N>S | No |
ClinGen gnomAD |
|
|
COSM141093 rs778964585 CA3030921 |
417 | D>N | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1394785412 CA357962640 |
419 | D>A | No |
ClinGen gnomAD |
|
|
rs753738914 CA3030918 |
419 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA103186297 rs889166163 |
420 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 422 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755851256 CA3030916 |
423 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA357962616 rs1398515085 |
423 | S>T | No |
ClinGen gnomAD |
|
|
rs1376577721 CA357962607 |
424 | S>N | No |
ClinGen TOPMed |
|
|
rs767138892 CA357962604 |
425 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA103186296 rs202051644 |
425 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3030913 COSM2952474 rs202051644 |
425 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767138892 CA3030914 |
425 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3030912 COSM267546 rs773733577 |
429 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA3030911 rs200736098 |
430 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs199995973 CA3030908 |
431 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3030905 rs201728277 |
434 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3030906 rs201728277 |
434 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357962548 rs1206805970 |
434 | P>S | No |
ClinGen gnomAD |
|
|
rs1206805970 CA357962550 |
434 | P>T | No |
ClinGen gnomAD |
|
|
rs746010109 CA3030904 COSM1267344 |
435 | S>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1049712 rs1213731455 CA357962538 |
436 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1216954974 CA357962530 |
437 | N>D | No |
ClinGen gnomAD |
|
|
CA357962526 rs1369187929 |
437 | N>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 438 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308179178 CA357962522 |
438 | G>S | No |
ClinGen TOPMed |
|
|
CA357962510 rs1275888087 |
439 | C>W | No |
ClinGen gnomAD |
|
|
rs1442131660 CA357962506 |
440 | S>C | No |
ClinGen gnomAD |
|
|
rs199807268 CA3030902 |
441 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199807268 CA103186295 |
441 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199807268 CA357962501 |
441 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430858308 CA357962488 |
443 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1430858308 CA357962489 |
443 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1694766 rs940598020 CA103186294 |
446 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA103186293 rs201442145 |
447 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA357962465 rs201442145 |
447 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs368816792 CA3030898 |
449 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469593398 CA357962451 |
450 | T>A | No |
ClinGen gnomAD |
|
|
CA103186292 rs916300789 |
450 | T>I | No |
ClinGen TOPMed |
|
|
rs1249578396 CA357962442 |
451 | S>L | No |
ClinGen gnomAD |
|
|
CA103186290 rs201723308 |
452 | S>N | No |
ClinGen Ensembl |
|
|
CA103186287 rs1047653156 |
454 | I>K | No |
ClinGen Ensembl |
|
|
CA103186288 rs992082007 |
454 | I>V | No |
ClinGen TOPMed |
|
|
CA103186286 rs111751295 |
455 | S>G | No |
ClinGen Ensembl |
|
|
rs1560796518 CA357962410 |
456 | S>A | No |
ClinGen Ensembl |
|
|
CA357962401 rs1483292600 |
457 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754632263 CA3030896 |
458 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA103186285 rs376739484 |
462 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs751167425 CA3030895 |
463 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751167425 CA357962368 |
463 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA103186283 rs1035842182 |
465 | S>F | No |
ClinGen TOPMed |
|
|
rs564772018 CA103186284 |
465 | S>P | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 466 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with P29371
[MIM: 614840]: Hypogonadotropic hypogonadism 11 with or without anosmia (HH11)
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:19079066, 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 TACR3 as well as in other HH-associated genes including FGFR1, SPRY4 and KAL1 (PubMed:23643382). {ECO:0000269|PubMed:23643382}.
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:19079066, 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 TACR3 as well as in other HH-associated genes including FGFR1, SPRY4 and KAL1 (PubMed:23643382). {ECO:0000269|PubMed:23643382}.
1 regional properties for P29371
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 102 - 356 | IPR017452 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dendrite membrane | The portion of the plasma membrane surrounding a dendrite. |
| 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. |
| neuronal cell body membrane | The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sperm midpiece | The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| tachykinin receptor activity | Combining with a tachykinin neuropeptide and transmitting the signal across the membrane by activating an associated G-protein. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| hyperosmotic salinity response | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of detection of, or exposure to, an increase in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment. |
| positive regulation of blood pressure | Any process in which the force of blood traveling through the circulatory system is increased. |
| positive regulation of flagellated sperm motility | Any process that activates or increases the frequency, rate or extent of flagellated sperm motility. |
| positive regulation of heart rate | Any process that activates or increases the frequency or rate of heart contraction. |
| positive regulation of uterine smooth muscle contraction | Any process that increases the frequency, rate or extent of uterine smooth muscle contraction. |
| regulation of dopamine metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving dopamine. |
| regulation of feeding behavior | Any process that modulates the rate, frequency or extent of the behavior associated with the intake of food. |
| response to cocaine | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cocaine stimulus. Cocaine is a crystalline alkaloid obtained from the leaves of the coca plant. |
| response to estradiol | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. |
| response to morphine | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a morphine stimulus. Morphine is an opioid alkaloid, isolated from opium, with a complex ring structure. |
| tachykinin receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by tachykinin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. Tachykinin is a short peptide with the terminal sequence (Phe-X-Gly-Leu-Met-NH2). |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATLPAAETW | IDGGGGVGAD | AVNLTASLAA | GAATGAVETG | WLQLLDQAGN | LSSSPSALGL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVASPAPSQP | WANLTNQFVQ | PSWRIALWSL | AYGVVVAVAV | LGNLIVIWII | LAHKRMRTVT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NYFLVNLAFS | DASMAAFNTL | VNFIYALHSE | WYFGANYCRF | QNFFPITAVF | ASIYSMTAIA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VDRYMAIIDP | LKPRLSATAT | KIVIGSIWIL | AFLLAFPQCL | YSKTKVMPGR | TLCFVQWPEG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PKQHFTYHII | VIILVYCFPL | LIMGITYTIV | GITLWGGEIP | GDTCDKYHEQ | LKAKRKVVKM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MIIVVMTFAI | CWLPYHIYFI | LTAIYQQLNR | WKYIQQVYLA | SFWLAMSSTM | YNPIIYCCLN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KRFRAGFKRA | FRWCPFIKVS | SYDELELKTT | RFHPNRQSSM | YTVTRMESMT | VVFDPNDADT |
| 430 | 440 | 450 | 460 | ||
| TRSSRKKRAT | PRDPSFNGCS | RRNSKSASAT | SSFISSPYTS | VDEYS |