Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.S127_M128insS

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.S127_M128insS
c.379_383ins3
Surrounding Variants
1 paper
NM_002386.4
p.S127A
c.379T>G
1 paper
NM_002386.4
p.S127C
c.380C>G
1 paper
NM_002386.4
p.S127F
c.380C>T
1 paper
NM_002386.4
p.S127delFs
c.379delT
1 paper
NM_002386.4
p.S126T
c.377G>C
3 papers
NM_002386.4
p.M128L
c.382A>C
4 papers
NM_002386.4
p.S126G
c.376A>G
1 paper
NM_002386.4
p.M128V
c.382A>G
4 papers
NM_002386.4
p.M128L
c.382A>T
7 papers
NM_002386.4
p.C125C
c.375C>T
3 papers
NM_002386.4
p.M128K
c.383T>A
17 papers
NM_002386.4
p.M128T
c.383T>C
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