Varaico: Literature-Extracted Genetic Variants

Gene:GPR75
Variant:p.N504K

GPR75

51 papers

RefSeq Summary

GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM, Jul 2002].

Pfam Domains

7tm_1aa 59–376UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

G protein-coupled receptor 75

HGNC Alias Symbol

WI-31133

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006794.4
p.N504K
c.1512C>A
Surrounding Variants
1 paper
NM_006794.4
p.N504K
c.1512C>G
1 paper
NM_006794.4
p.S505C
c.1514C>G
1 paper
NM_006794.4
p.F506S
c.1517T>C
1 paper
NM_006794.4
p.H516Y
c.1546C>T
1 paper
NM_006794.4
p.I475fs
c.1423_1424fs
1 paper
NM_006794.4
p.P474_I475insFs
c.1422_1423ins7
1 paper
NM_006794.4
p.P474H
c.1421C>A
1 paper
NM_006794.4
p.P474S
c.1420C>T
1 paper
NM_006794.4
p.S471G
c.1411A>G
2 papers
NM_006794.4
p.G468D
c.1403G>A
1 paper
NM_006794.4
p.K459T
c.1376A>C
5 papers
NM_006794.4
p.P458S
c.1372C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."