Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V54M

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.V54M
c.160G>A
Surrounding Variants
2 papers
NM_002386.4
p.V54L
c.160G>C
2 papers
NM_002386.4
p.V54L
c.160G>T
1 paper
NM_002386.4
p.L53L
c.159G>A
3 papers
NM_002386.4
p.L53F
c.159G>C
1 paper
NM_002386.4
p.L53F
c.159G>T
1 paper
NM_002386.4
p.V54E
c.161T>A
1 paper
NM_002386.4
p.V54A
c.161T>C
1 paper
NM_002386.4
p.V54delFs
c.162delG
1 paper
NM_002386.4
p.E55Q
c.163G>C
1 paper
NM_002386.4
p.E55insFs
c.163_164insA
1 paper
NM_002386.4
p.E55fs
c.163_164fs
5 papers
NM_002386.4
p.L53M
c.157T>A
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