Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V92M

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
348 papers
NM_002386.4
p.V92M
c.274G>A
Surrounding Variants
13 papers
NM_002386.4
p.V92L
c.274G>C
13 papers
NM_002386.4
p.V92L
c.274G>T
2 papers
NM_002386.4
p.N91K
c.273C>A
2 papers
NM_002386.4
p.N91K
c.273C>G
1 paper
NM_002386.4
p.V92E
c.275T>A
1 paper
NM_002386.4
p.V92_L93delFs
c.276_277delGC
1 paper
NM_002386.4
p.N91S
c.272A>G
9 papers
NM_002386.4
p.N91D
c.271A>G
2 papers
NM_002386.4
p.L93M
c.277C>A
1 paper
NM_002386.4
p.L93L
c.277C>T
1 paper
NM_002386.4
p.L93delFs
c.278_279delTG
18 papers
NM_002386.4
p.L93R
c.278T>G
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