Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.K310del1

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.K310del1
c.928_930delAAG
Surrounding Variants
1 paper
NM_002386.4
p.L309L
c.927C>G
3 papers
NM_002386.4
p.L309L
c.927C>T
2 papers
NM_002386.4
p.K310Q
c.928A>C
1 paper
NM_002386.4
p.K310R
c.929A>G
1 paper
NM_002386.4
p.L309V
c.925C>G
1 paper
NM_002386.4
p.L309delFs
c.925delC
18 papers
NM_002386.4
p.T308M
c.923C>T
1 paper
NM_002386.4
p.E311K
c.931G>A
6 papers
NM_002386.4
p.T308A
c.922A>G
3 papers
NM_002386.4
p.E311E
c.933G>A
1 paper
NM_002386.4
p.R307S
c.921G>C
2 papers
NM_002386.4
p.R307S
c.921G>T
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