Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.S83P

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
51 papers
NM_002386.4
p.S83P
c.247T>C
Surrounding Variants
1 paper
NM_002386.4
p.S83_D84insA
c.247_251ins3
1 paper
NM_002386.4
p.S83delFs
c.248delC
1 paper
NM_002386.4
p.S83*
c.248C>A
19 papers
NM_002386.4
p.S83L
c.248C>T
3 papers
NM_002386.4
p.S83S
c.249G>A
1 paper
NM_002386.4
p.L82S
c.245T>C
1 paper
NM_002386.4
p.L82_S83insFs
c.246_247insG
14 papers
NM_002386.4
p.D84N
c.250G>A
3 papers
NM_002386.4
p.D84H
c.250G>C
2 papers
NM_002386.4
p.D84_L85insA
c.250_254ins3
1 paper
NM_002386.4
p.D84Y
c.250G>T
1 paper
NM_002386.4
p.L82V
c.244T>G
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