Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L11L

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.L11L
c.31C>T
Surrounding Variants
1 paper
NM_002386.4
p.L11ins3
c.32_33ins9
3 papers
NM_002386.4
p.L11L
c.33G>C
1 paper
NM_002386.4
p.L11L
c.33G>T
1 paper
NM_002386.4
p.L10H
c.29T>A
8 papers
NM_002386.4
p.L10insFs
c.29_30insA
1 paper
NM_002386.4
p.L10insFs
c.29_30insC
1 paper
NM_002386.4
p.L10F
c.28C>T
11 papers
NM_002386.4
p.G12C
c.34G>T
4 papers
NM_002386.4
p.G12D
c.35G>A
1 paper
NM_002386.4
p.G12G
c.36C>G
1 paper
NM_002386.4
p.R9insFs
c.26_27ins7
1 paper
NM_002386.4
p.R9I
c.26G>T
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