P28336
PR
Gene name |
NMBR |
Protein name |
Neuromedin-B receptor |
Names |
NMB-R, Epididymis tissue protein Li 185a, Neuromedin-B-preferring bombesin receptor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4829 |
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
2 structures for P28336
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8H0P | EM | 315 A | R | 1-390 | PDB |
| AF-P28336-F1 | Predicted | AlphaFoldDB |
416 variants for P28336
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs755839763 CA4026118 |
5 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA149550884 rs755839763 |
5 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209715411 CA365884046 |
6 | L>P | No |
ClinGen gnomAD |
|
|
CA4026117 rs752575905 |
7 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs755000490 CA4026115 |
8 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs138656389 CA4026114 |
12 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365884002 rs1432305162 |
14 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA365884003 rs1432305162 |
14 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365883992 rs1322851874 |
15 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4026110 rs765537316 |
18 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1364220437 CA365883969 |
18 | S>R | No |
ClinGen TOPMed |
|
|
CA365883966 rs1462223741 |
19 | G>C | No |
ClinGen gnomAD |
|
|
rs1462223741 CA365883967 |
19 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762083287 CA4026108 |
20 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4026107 rs777114528 |
21 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4026106 rs140873356 |
22 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365883945 rs1307662493 |
23 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 24 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270475819 CA365883927 |
25 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770374190 CA4026103 |
26 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365883924 rs1215924771 |
26 | E>K | No |
ClinGen gnomAD |
|
|
CA149550881 rs769767411 |
29 | F>S | No |
ClinGen Ensembl |
|
|
rs1449271815 CA365883892 |
30 | L>P | No |
ClinGen TOPMed |
|
|
CA365883885 rs1186991025 |
31 | P>L | No |
ClinGen TOPMed |
|
|
CA4026101 rs144094965 |
32 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 32 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs561552859 CA4026100 |
33 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365883868 rs112415060 |
34 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365883866 rs1463034170 |
35 | G>E | No |
ClinGen TOPMed |
|
|
rs771538020 CA4026098 CA149550880 |
35 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771538020 CA4026097 |
35 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780191375 CA4026095 |
36 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1411833896 CA365883857 |
37 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA365883851 rs1300784330 |
38 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4026094 rs758523214 |
38 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 38 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs918071854 CA149550879 |
43 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs372711016 CA4026091 |
43 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372711016 CA365883817 |
43 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4026088 rs761046063 |
45 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4026089 rs146564973 |
45 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365883797 rs117568543 |
46 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 46 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1001531532 CA149550878 |
47 | P>L | No |
ClinGen Ensembl |
|
|
rs1208100552 CA365883794 |
47 | P>S | No |
ClinGen gnomAD |
|
|
rs762444627 CA365883788 |
48 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4026086 rs148515360 |
48 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762444627 CA4026085 |
48 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA149550877 rs968409741 |
50 | Y>C | No |
ClinGen TOPMed |
|
|
CA4026083 rs545055633 |
50 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4026082 rs200981099 |
51 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4026080 rs768476875 |
53 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs780731459 CA4026081 |
53 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs780137881 CA4026078 |
54 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs746842869 CA4026079 |
54 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365883748 rs1419605812 |
56 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM40381 rs1419605812 CA365883749 |
56 | V>M | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs750401666 CA365883739 |
57 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4026076 rs750401666 |
57 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365883733 rs1179317201 |
58 | L>F | No |
ClinGen gnomAD |
|
|
rs778988905 CA4026075 |
59 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1185280728 CA365883710 |
62 | I>N | No |
ClinGen gnomAD |
|
|
CA365883713 rs1582840379 |
62 | I>V | No |
ClinGen Ensembl |
|
|
CA4026074 rs773653138 |
63 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA365883679 rs1161166469 |
67 | I>L | No |
ClinGen TOPMed |
|
|
CA365883676 rs1345616413 |
67 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 67 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1582840361 CA365883672 |
68 | F>V | No |
ClinGen Ensembl |
|
|
CA4026071 rs149862882 |
71 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286180784 CA365883646 |
71 | N>K | No |
ClinGen gnomAD |
|
|
CA149550873 rs769867760 |
72 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4026069 rs375237353 |
73 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365883637 rs375237353 |
73 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365883628 rs1292942590 |
74 | M>K | No |
ClinGen gnomAD |
|
|
rs1292942590 CA365883627 |
74 | M>T | No |
ClinGen gnomAD |
|
|
CA4026068 rs759977066 |
75 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4026067 rs774724332 |
76 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4026066 rs769298912 |
76 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4026064 rs776318230 |
78 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1401671409 CA365883594 |
79 | N>K | No |
ClinGen gnomAD |
|
|
rs746789877 CA4026062 |
81 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4026061 rs368237153 |
82 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4026058 rs371545578 |
86 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1251230421 CA365883546 |
87 | A>S | No |
ClinGen TOPMed |
|
|
CA365883543 rs1471641220 |
87 | A>V | No |
ClinGen TOPMed |
|
|
CA4026055 rs778050436 |
91 | L>P | No |
ClinGen ExAC |
|
|
CA4026056 rs749363915 |
91 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA149550869 rs1040725359 |
92 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4026054 rs756384652 |
96 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs373070325 CA4026053 |
97 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365883481 rs755366862 |
98 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755366862 CA4026051 |
98 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582840259 CA365883475 |
99 | V>G | No |
ClinGen Ensembl |
|
|
COSM1642881 CA4026048 rs757097609 |
101 | A>T | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA365883462 rs1443692825 |
101 | A>V | No |
ClinGen TOPMed |
|
|
CA4026047 COSM115937 rs556376921 |
102 | S>L | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
COSM1217508 rs748186770 CA149550868 |
103 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA149550867 rs748186770 |
103 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs574252589 CA4026044 |
105 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766729999 COSM1580144 CA149550866 |
107 | D>G | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs745694294 CA4026042 |
107 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4026041 rs375746078 |
108 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420990339 CA365883412 |
109 | W>* | No |
ClinGen gnomAD |
|
|
CA4026040 rs147300407 |
109 | W>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1426253480 CA365883413 |
109 | W>L | No |
ClinGen gnomAD |
|
|
rs147300407 CA4026039 |
109 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1350468217 CA365883407 |
110 | M>V | No |
ClinGen TOPMed |
|
|
rs777770640 CA4026038 |
111 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs756188787 CA4026037 |
112 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365883384 rs1250983433 |
113 | K>R | No |
ClinGen gnomAD |
|
|
CA365883376 rs1436180198 |
114 | V>E | No |
ClinGen TOPMed |
|
|
rs1436180198 CA365883375 |
114 | V>G | No |
ClinGen TOPMed |
|
|
CA4026034 rs755305618 |
116 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs371812387 CA4026033 |
117 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4026032 rs766898572 |
118 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365883353 rs1189393100 |
118 | L>Q | No |
ClinGen TOPMed |
|
|
rs1215728513 CA365883347 |
119 | I>N | No |
ClinGen gnomAD |
|
|
rs758776705 CA4026031 |
120 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4026029 rs367683477 |
121 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4026030 rs367683477 |
121 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA149550863 rs376912685 |
123 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA365883313 rs1582840175 |
125 | T>A | No |
ClinGen Ensembl |
|
|
CA4026025 rs543039237 |
127 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143952823 CA4026026 |
127 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143952823 CA4026027 |
127 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4026024 rs774069164 |
128 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4026023 rs770771507 |
128 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA365883283 rs201782506 |
131 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4026021 rs201782506 |
131 | V>M | Variant assessed as Somatic; 4.787e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA365883272 rs1329016985 |
132 | F>L | No |
ClinGen TOPMed |
|
|
rs769816008 CA4026020 |
134 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237305758 CA365883258 |
135 | T>A | No |
ClinGen gnomAD |
|
|
rs748268416 CA4026019 |
135 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4026018 rs781388255 |
136 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA365883236 rs768819168 |
138 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA149550862 rs138030969 |
140 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA365883228 rs138030969 |
140 | D>Y | No |
ClinGen ESP gnomAD |
|
|
CA365883222 rs1301922658 |
141 | R>G | No |
ClinGen gnomAD |
|
|
CA149550861 rs970488055 |
141 | R>K | No |
ClinGen Ensembl |
|
|
CA4026001 CA4026002 rs777527367 |
141 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs977372916 CA149549796 |
142 | Y>H | No |
ClinGen gnomAD |
|
|
CA365882970 rs1463621924 |
143 | R>K | No |
ClinGen TOPMed |
|
|
CA4025999 rs768787948 |
144 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768787948 CA4025998 |
144 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761869754 CA4026000 |
144 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs768787948 CA365882963 |
144 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025997 rs747163063 |
145 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141190379 CA4025995 |
146 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141190379 CA4025994 |
146 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4025991 rs148202124 |
148 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4025990 COSM35359 rs138994608 |
148 | P>H | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA149549795 rs138994608 |
148 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4025992 rs148202124 |
148 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365882933 rs1317448711 |
150 | D>N | No |
ClinGen TOPMed |
|
|
CA365882920 rs1255583089 |
151 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs958428525 CA149549794 |
151 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4025988 rs754545858 |
153 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025984 rs569958363 |
154 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA149549793 rs937751478 |
155 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1476613749 CA365882892 |
156 | A>S | No |
ClinGen TOPMed |
|
|
rs201747486 CA149549791 COSM388533 |
159 | R>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201747486 CA4025980 |
159 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4025981 rs201747486 |
159 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371859583 CA4025982 |
159 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA149549790 rs879009695 |
160 | T>I | No |
ClinGen Ensembl |
|
|
rs776583337 COSM362494 CA4025979 |
162 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs199557386 CA365882851 |
163 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459771986 CA365882837 |
165 | M>I | No |
ClinGen TOPMed |
|
|
rs368866966 CA365882842 |
165 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4025976 rs775548315 |
165 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs368866966 CA4025977 |
165 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365882831 rs1380994994 |
166 | G>V | No |
ClinGen gnomAD |
|
|
CA4025975 rs56126862 |
167 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365882826 rs1398436063 |
167 | I>M | No |
ClinGen TOPMed |
|
|
rs56126862 CA4025974 |
167 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1383828550 CA365882819 |
168 | W>* | No |
ClinGen gnomAD |
|
|
rs1316182630 CA365882821 |
168 | W>S | No |
ClinGen gnomAD |
|
|
CA365882816 rs1385476873 |
169 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs547033876 CA4025973 COSM3016602 |
172 | V>M | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs771424137 CA4025972 |
173 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025971 rs370281298 |
174 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4025970 rs778365398 |
176 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs534826257 CA4025967 COSM3941528 |
178 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4025966 rs374088762 |
178 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4025965 rs570950524 |
179 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753692955 CA4025962 |
180 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025963 rs56262331 |
180 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4025961 rs764128053 |
185 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4025960 rs760671411 |
185 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025959 rs201727010 |
186 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM2152250 rs767510484 CA365882699 |
186 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4025958 rs767510484 |
186 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025956 rs774747188 |
187 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774747188 CA4025957 |
187 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025955 rs771374979 |
188 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365882674 rs1406144007 |
188 | S>N | No |
ClinGen gnomAD |
|
|
rs1166223396 CA365882641 |
190 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365882627 rs1391338605 |
191 | D>A | No |
ClinGen gnomAD |
|
|
rs923956095 CA149549787 CA365882622 |
191 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA365882624 rs1391338605 |
191 | D>V | No |
ClinGen gnomAD |
|
|
rs145461947 CA4025953 |
192 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA149549786 rs745523807 |
193 | S>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4025952 rs370515994 |
193 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373665299 CA4025951 |
196 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779548798 CA4025950 |
196 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs140322909 CA4025949 |
197 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1301909004 CA365882522 |
198 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4025948 rs745471891 |
198 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4025947 rs146719553 |
199 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146719553 CA4025946 |
199 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150018898 CA4025945 |
201 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1303855835 CA365882447 |
203 | Q>R | No |
ClinGen gnomAD |
|
|
rs1238747990 CA365882427 |
205 | D>Y | No |
ClinGen TOPMed |
|
|
rs1437535917 CA365882365 |
209 | P>L | No |
ClinGen gnomAD |
|
|
CA4025942 rs140493962 |
214 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756025398 CA4025943 |
214 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA365882303 rs1371199081 |
215 | L>P | No |
ClinGen gnomAD |
|
|
CA365882294 rs1184818611 |
216 | I>T | No |
ClinGen TOPMed |
|
|
CA4025941 rs767666851 |
217 | F>C | No |
ClinGen ExAC |
|
|
rs559108211 CA4025940 |
218 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751810826 CA4025939 |
219 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs766748112 CA4025938 |
220 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1469893616 CA365882240 |
221 | F>L | No |
ClinGen gnomAD |
|
|
rs151260743 CA4025935 |
223 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4025936 rs773566882 |
223 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958544410 CA149549784 |
224 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1256172866 CA365882223 |
224 | P>L | No |
ClinGen gnomAD |
|
|
rs958544410 CA365882227 |
224 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs904910262 CA149549783 |
225 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs777023719 CA4025933 |
226 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365882213 rs777023719 |
226 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 227 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745418456 CA4025932 |
227 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs745418456 CA4025931 |
227 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA365882203 rs1348217434 |
228 | I>T | No |
ClinGen gnomAD |
|
|
CA365882207 rs1448846484 |
228 | I>V | No |
ClinGen TOPMed |
|
|
CA4025929 rs778528116 |
229 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770631729 CA4025928 |
233 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA365882159 rs1374481292 |
234 | H>P | No |
ClinGen TOPMed |
|
|
CA365882161 rs1351247071 |
234 | H>Y | No |
ClinGen gnomAD |
|
|
CA149549782 rs1034059923 |
235 | I>T | No |
ClinGen gnomAD |
|
|
CA365882154 rs1448757983 |
235 | I>V | No |
ClinGen TOPMed |
|
|
CA365882148 rs748910779 |
236 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4025927 rs748910779 |
236 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4025926 rs113907063 |
237 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs973171261 CA149549781 |
237 | K>Q | No |
ClinGen Ensembl |
|
|
rs755894962 CA4025925 |
238 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755894962 CA365882135 |
238 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA149549780 rs1014575743 |
242 | S>N | No |
ClinGen Ensembl |
|
|
CA365882102 rs1312327810 |
243 | A>E | No |
ClinGen TOPMed |
|
|
rs147317413 CA365882103 |
243 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4025922 rs147317413 |
243 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1426931503 CA365882093 |
244 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs543641531 CA4025921 |
245 | N>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1185171659 CA365882086 |
245 | N>K | No |
ClinGen gnomAD |
|
|
rs1238008461 CA365882069 |
248 | G>A | No |
ClinGen gnomAD |
|
|
rs1052765352 CA149549779 |
248 | G>R | No |
ClinGen TOPMed |
|
|
CA365882053 rs1214938729 |
250 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs751755884 CA365882045 |
251 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4025918 rs145581958 |
252 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145581958 CA4025919 |
252 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1230537807 CA365882037 |
253 | H>N | No |
ClinGen gnomAD |
|
|
rs1330087979 CA365882031 |
253 | H>Q | No |
ClinGen gnomAD |
|
|
rs1292838520 CA365882026 |
254 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4025917 rs750642045 |
255 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1470345555 | 256 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365882006 rs1430610894 |
257 | Q>* | No |
ClinGen gnomAD |
|
|
CA4025916 rs541094688 |
257 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 257 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868337437 CA149549500 |
258 | M>I | No |
ClinGen Ensembl |
|
|
CA4025888 rs769399701 |
261 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs769399701 CA4025887 |
261 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762420799 CA4025889 |
261 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1286647 CA4025886 rs766550244 |
263 | R>C | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746892172 CA4025884 |
263 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025883 rs746892172 |
263 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025885 rs746892172 |
263 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200814414 CA4025881 |
267 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365881924 rs1370786750 |
269 | L>F | No |
ClinGen gnomAD |
|
|
rs1582832059 CA365881919 |
270 | V>L | No |
ClinGen Ensembl |
|
|
CA4025880 rs572483557 |
271 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560419801 CA4025879 |
271 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4025877 rs754067648 |
273 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365881857 rs1169192783 COSM594437 |
279 | W>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1360950627 CA365881846 |
280 | F>Y | No |
ClinGen gnomAD |
|
|
CA365881839 rs1342486500 |
281 | P>S | No |
ClinGen TOPMed |
|
|
CA4025874 rs764406750 |
282 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs756496997 CA4025873 |
283 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs190275378 CA4025872 |
284 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs190275378 CA4025871 |
284 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs190275378 CA149549499 |
284 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs942814132 CA149549498 |
285 | L>I | No |
ClinGen gnomAD |
|
|
rs762521874 CA4025870 |
285 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA365881809 rs1289032197 |
286 | Y>C | No |
ClinGen TOPMed |
|
|
rs772656617 CA4025869 |
286 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365881813 rs772656617 |
286 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365881802 rs1490695811 |
287 | M>I | No |
ClinGen TOPMed |
|
|
rs556854813 CA4025867 |
287 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3744958 CA4025868 rs764817361 |
287 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs776445501 CA4025866 |
288 | Y>C | No |
ClinGen ExAC |
|
|
rs771956710 CA365881791 |
289 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025863 rs771956710 |
289 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025862 rs771956710 |
289 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376623534 COSM1311617 CA4025865 |
289 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4025861 rs745827668 |
290 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 292 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313105923 CA365881774 |
292 | N>T | No |
ClinGen gnomAD |
|
|
rs1172506867 CA365881765 |
293 | Y>C | No |
ClinGen gnomAD |
|
|
CA4025859 rs771078191 |
294 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4025857 rs371521732 |
298 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365881707 rs1373578736 |
302 | H>Y | No |
ClinGen gnomAD |
|
|
rs1466390519 CA365881693 |
303 | M>I | No |
ClinGen gnomAD |
|
|
rs1304470070 CA365881700 |
303 | M>V | No |
ClinGen gnomAD |
|
|
CA4025854 rs375137066 |
304 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4025855 rs150579060 |
304 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200068103 CA4025853 |
306 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256059200 CA365881666 |
308 | V>A | No |
ClinGen gnomAD |
|
|
CA4025851 rs764602805 |
308 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs142626832 CA4025850 |
310 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186199835 CA4025848 |
310 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4025849 rs142626832 RCV000949511 |
310 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1312373299 CA365881654 |
311 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 312 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148442580 CA149549497 |
313 | S>G | No |
ClinGen 1000Genomes |
|
|
CA4025844 rs368348932 |
313 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266576951 CA365881627 |
315 | G>D | No |
ClinGen TOPMed |
|
|
rs368923441 CA149549496 |
317 | S>F | No |
ClinGen Ensembl |
|
|
CA4025843 rs41289827 |
318 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150510076 CA4025842 |
319 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs888675249 CA149549495 |
321 | P>S | No |
ClinGen Ensembl |
|
|
rs749413549 CA4025840 |
322 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1025855602 CA149549494 |
323 | A>G | No |
ClinGen Ensembl |
|
|
rs1562388261 CA365881574 |
324 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1391135835 CA365881565 |
325 | Y>C | No |
ClinGen gnomAD |
|
|
rs536447941 CA4025838 |
325 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141607430 CA365881556 |
327 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141607430 CA4025837 |
327 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141607430 CA4025836 |
327 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183241179 CA365881549 |
328 | S>I | No |
ClinGen TOPMed |
|
|
CA365881527 rs1381431641 |
331 | F>L | No |
ClinGen gnomAD |
|
|
rs550434021 CA4025834 |
332 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365881512 rs1424895303 |
333 | R>K | No |
ClinGen gnomAD |
|
|
CA365881511 rs1424895303 |
333 | R>T | No |
ClinGen gnomAD |
|
|
rs756820937 CA365881506 |
334 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756820937 CA4025832 |
334 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025831 rs753453294 |
336 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763708011 CA4025830 |
337 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs371670947 CA4025829 |
339 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4025828 rs199835105 |
340 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889899786 CA149549492 |
342 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA365881443 rs1562388195 |
343 | R>K | No |
ClinGen Ensembl |
|
|
rs947230038 CA149549490 |
344 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs544356213 CA149549489 |
345 | S>T | No |
ClinGen Ensembl |
|
|
rs761809249 CA149549488 |
346 | Y>D | No |
ClinGen Ensembl |
|
|
rs759426469 CA4025826 |
347 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA365881404 rs1333595146 |
349 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1461103417 CA365881402 |
349 | R>K | No |
ClinGen gnomAD |
|
|
rs372175532 COSM360242 CA4025824 |
350 | G>* | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA4025823 rs770923715 |
351 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227160543 CA365881390 |
351 | T>I | No |
ClinGen TOPMed |
|
|
rs1227160543 CA365881388 |
351 | T>N | No |
ClinGen TOPMed |
|
|
rs1187186403 CA365881385 |
352 | S>N | No |
ClinGen gnomAD |
|
|
CA4025821 rs773219194 |
352 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1451768584 CA365881376 |
353 | Y>C | No |
ClinGen gnomAD |
|
|
rs986233123 CA149549487 |
354 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA149549486 rs932025273 |
355 | L>V | No |
ClinGen TOPMed |
|
|
rs1449511489 CA365881355 |
357 | S>T | No |
ClinGen gnomAD |
|
|
rs199759013 CA4025819 |
358 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4025817 rs768869842 |
359 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4025814 rs758915165 |
361 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758915165 CA365881332 |
361 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1217509 rs746377006 CA4025813 |
361 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA365881328 rs1438349702 |
362 | M>V | No |
ClinGen gnomAD |
|
|
rs1329572896 CA365881307 |
365 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs370085213 CA4025811 |
368 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767242114 CA365881277 |
369 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767242114 CA4025809 |
369 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981965284 CA149549485 |
370 | K>E | No |
ClinGen gnomAD |
|
|
rs754728630 CA4025808 |
370 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365881269 rs1173411006 |
371 | N>H | No |
ClinGen gnomAD |
|
|
rs969150627 CA149549484 |
371 | N>T | No |
ClinGen Ensembl |
|
|
CA365881267 rs1173411006 |
371 | N>Y | No |
ClinGen gnomAD |
|
|
CA4025807 rs751431020 |
372 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA365881261 rs1477211704 |
372 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766177425 CA4025806 |
373 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1290790564 CA365881248 |
374 | T>A | No |
ClinGen TOPMed |
|
|
CA365881239 rs773165958 |
375 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025804 rs773165958 |
375 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365881226 rs371294748 |
377 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4025802 rs371294748 |
377 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA149549483 rs561318773 |
378 | L>F | No |
ClinGen Ensembl |
|
|
CA365881222 rs1279443747 |
378 | L>S | No |
ClinGen gnomAD |
|
|
rs1323991449 CA365881219 |
379 | L>I | No |
ClinGen gnomAD |
|
|
CA149549482 rs983765831 |
381 | G>E | No |
ClinGen Ensembl |
|
|
rs775927208 CA4025798 |
382 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4025797 rs772591837 |
382 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs775927208 CA4025799 |
382 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763233633 CA4025796 |
383 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365881188 rs1306257155 |
384 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365881175 rs1211093976 |
385 | K>R | No |
ClinGen TOPMed |
|
|
rs1411665624 CA365881160 |
387 | E>G | No |
ClinGen gnomAD |
|
|
rs779616036 CA4025795 |
389 | A>T | No |
ClinGen ExAC |
|
|
CA149549481 rs952493388 |
389 | A>V | No |
ClinGen gnomAD |
|
|
CA4025793 rs7453944 VAR_044513 |
390 | L>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780696585 CA4025792 |
390 | L>P | No |
ClinGen ExAC gnomAD |
|
| rs751217987 | 391 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409222935 CA365881134 |
391 | L>C | No |
ClinGen gnomAD |
|
|
rs754602943 CA4025791 |
391 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA365881138 rs751217987 |
391 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P28336
1 regional properties for P28336
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 60 - 324 | IPR017452 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| bombesin receptor activity | Combining with bombesin to initiate a change in cell activity. |
| 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 receptor activity | Combining with a neuropeptide to initiate a change in cell activity. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| antiviral innate immune response | A defense response against viruses mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens. |
| 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. |
| negative regulation of interleukin-6 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-6 production. |
| phospholipase C-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of phospholipase C (PLC) and a subsequent increase in the intracellular concentration of inositol trisphosphate (IP3) and diacylglycerol (DAG). |
| positive regulation of interferon-alpha production | Any process that activates or increases the frequency, rate, or extent of interferon-alpha production. |
| positive regulation of osteoclast proliferation | Any process that increases the rate, frequency, or extent of the multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. |
| positive regulation of respiratory gaseous exchange | Any process that activates or increases the frequency, rate or extent of respiratory gaseous exchange. |
| sneeze reflex | A reflex process that expels air forcibly from the mouth and nose in an explosive, spasmodic involuntary action resulting chiefly from irritation of the nasal mucous membrane. |
120 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 |
| Q8SPN1 | PROKR2 | Prokineticin receptor 2 | 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 |
| 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 |
| Q8NFJ6 | PROKR2 | Prokineticin receptor 2 | Homo sapiens (Human) | 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 |
| 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 |
| Q8TCW9 | PROKR1 | Prokineticin receptor 1 | Homo sapiens (Human) | PR |
| Q99788 | CMKLR1 | Chemerin-like receptor 1 | Homo sapiens (Human) | PR |
| P08908 | HTR1A | 5-hydroxytryptamine receptor 1A | Homo sapiens (Human) | PR |
| P30559 | OXTR | Oxytocin receptor | 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 |
| O43613 | HCRTR1 | Orexin/Hypocretin receptor type 1 | 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 |
| P19973 | Lsp1 | Lymphocyte-specific protein 1 | 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 |
| Q8K458 | Prokr2 | Prokineticin receptor 2 | 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 |
| O54799 | Nmbr | Neuromedin-B receptor | 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 |
| Q8R415 | Prokr2 | Prokineticin receptor 2 | 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 |
| P24053 | Nmbr | Neuromedin-B receptor | 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 |
| MPSKSLSNLS | VTTGANESGS | VPEGWERDFL | PASDGTTTEL | VIRCVIPSLY | LLIITVGLLG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NIMLVKIFIT | NSAMRSVPNI | FISNLAAGDL | LLLLTCVPVD | ASRYFFDEWM | FGKVGCKLIP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VIQLTSVGVS | VFTLTALSAD | RYRAIVNPMD | MQTSGALLRT | CVKAMGIWVV | SVLLAVPEAV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSEVARISSL | DNSSFTACIP | YPQTDELHPK | IHSVLIFLVY | FLIPLAIISI | YYYHIAKTLI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KSAHNLPGEY | NEHTKKQMET | RKRLAKIVLV | FVGCFIFCWF | PNHILYMYRS | FNYNEIDPSL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GHMIVTLVAR | VLSFGNSCVN | PFALYLLSES | FRRHFNSQLC | CGRKSYQERG | TSYLLSSSAV |
| 370 | 380 | ||||
| RMTSLKSNAK | NMVTNSVLLN | GHSMKQEMAL |