Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.I264I

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
14 papers
NM_002386.4
p.I264I
c.792C>T
Surrounding Variants
13 papers
NM_002386.4
p.V265I
c.793G>A
1 paper
NM_002386.4
p.V265insFs
c.794dupT
1 paper
NM_002386.4
p.I264L
c.790A>C
9 papers
NM_002386.4
p.I264V
c.790A>G
1 paper
NM_002386.4
p.I264delFs
c.791delT
1 paper
NM_002386.4
p.V265D
c.794T>A
1 paper
NM_002386.4
p.V265V
c.795C>G
1 paper
NM_002386.4
p.L263L
c.789C>T
1 paper
NM_002386.4
p.V265V
c.795C>T
2 papers
NM_002386.4
p.L263P
c.788T>C
1 paper
NM_002386.4
p.L263R
c.788T>G
1 paper
NM_002386.4
p.L263delFs
c.789delC
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