Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A81T

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
3 papers
NM_002386.4
p.A81T
c.241G>A
Surrounding Variants
12 papers
NM_002386.4
p.A81P
c.241G>C
1 paper
NM_002386.4
p.A81_L82insFs
c.243_244insC
4 papers
NM_002386.4
p.A81V
c.242C>T
1 paper
NM_002386.4
p.A81_L82insFs
c.243_244insAG
2 papers
NM_002386.4
p.A81A
c.243C>T
1 paper
NM_002386.4
p.L82del1
c.244_245delTTG
3 papers
NM_002386.4
p.L80P
c.239T>C
1 paper
NM_002386.4
p.A81delFs
c.241delG
1 paper
NM_002386.4
p.L80_L85delFs
c.240_253del14
1 paper
NM_002386.4
p.L80V
c.238C>G
1 paper
NM_002386.4
p.L80L
c.238C>T
1 paper
NM_002386.4
p.L82V
c.244T>G
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