Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.M199L

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
2 papers
NM_002386.4
p.M199L
c.595A>T
Surrounding Variants
2 papers
NM_002386.4
p.M199L
c.595A>C
1 paper
NM_002386.4
p.A198V
c.593C>T
1 paper
NM_002386.4
p.A198P
c.592G>C
1 paper
NM_002386.4
p.L200P
c.599T>C
28 papers
NM_002386.4
p.F196L
c.588C>A
28 papers
NM_002386.4
p.F196L
c.588C>G
1 paper
NM_002386.4
p.V201A
c.602T>C
1 paper
NM_002386.4
p.F196delFs
c.588delC
29 papers
NM_002386.4
p.F196L
c.586T>C
2 papers
NM_002386.4
p.F196V
c.586T>G
2 papers
NM_002386.4
p.F195L
c.585C>A
2 papers
NM_002386.4
p.F195L
c.585C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."