Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V193L

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.V193L
c.577G>C
Surrounding Variants
5 papers
NM_002386.4
p.V193M
c.577G>A
3 papers
NM_002386.4
p.V193L
c.577G>T
1 paper
NM_002386.4
p.L192L
c.576C>G
1 paper
NM_002386.4
p.V194_F195del2
c.580_584del6
1 paper
NM_002386.4
p.L192fs
c.574_575fs
4 papers
NM_002386.4
p.F195del1
c.583_584delTTC
1 paper
NM_002386.4
p.C191C
c.573C>T
1 paper
NM_002386.4
p.F195delFs
c.584delT
2 papers
NM_002386.4
p.C191S
c.572G>C
2 papers
NM_002386.4
p.F195L
c.583T>C
3 papers
NM_002386.4
p.F195V
c.583T>G
1 paper
NM_002386.4
p.C191G
c.571T>G
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