Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.S130P

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.S130P
c.388T>C
Surrounding Variants
2 papers
NM_002386.4
p.S130F
c.389C>T
6 papers
NM_002386.4
p.S131N
c.392G>A
1 paper
NM_002386.4
p.M128I
c.384G>A
1 paper
NM_002386.4
p.M128I
c.384G>C
3 papers
NM_002386.4
p.M128I
c.384G>T
1 paper
NM_002386.4
p.S131S
c.393C>T
3 papers
NM_002386.4
p.M128K
c.383T>A
17 papers
NM_002386.4
p.M128T
c.383T>C
3 papers
NM_002386.4
p.M128L
c.382A>C
1 paper
NM_002386.4
p.M128V
c.382A>G
4 papers
NM_002386.4
p.M128L
c.382A>T
1 paper
NM_002386.4
p.S127C
c.380C>G
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