Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.G49G

MC1R

1,094 papers

RefSeq Summary

This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two type...

Pfam Domains

7tm_1aa 55–188UCSC7 transmembrane receptor (rhodopsin family)
7tm_1aa 181–298UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 1 receptor

HGNC Alias Symbol

MSH-R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002386.4
p.G49G
c.147G>A
Surrounding Variants
1 paper
NM_002386.4
p.L50fs
c.148_149fs
2 papers
NM_002386.4
p.G49R
c.145G>A
2 papers
NM_002386.4
p.G49W
c.145G>T
2 papers
NM_002386.4
p.L50L
c.150G>A
3 papers
NM_002386.4
p.L48L
c.144G>C
1 paper
NM_002386.4
p.V51delFs
c.151_152delGT
1 paper
NM_002386.4
p.V51_S52insC
c.151_155ins3
4 papers
NM_002386.4
p.L48Q
c.143T>A
4 papers
NM_002386.4
p.L48P
c.143T>C
1 paper
NM_002386.4
p.L48R
c.143T>G
2 papers
NM_002386.4
p.G49delFs
c.147delG
2 papers
NM_002386.4
p.L48M
c.142C>A
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