Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L282I

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.L282I
c.844C>A
Surrounding Variants
1 paper
NM_002386.4
p.L282V
c.844C>G
2 papers
NM_002386.4
p.L282F
c.844C>T
2 papers
NM_002386.4
p.N281T
c.842A>C
13 papers
NM_002386.4
p.N281S
c.842A>G
1 paper
NM_002386.4
p.F283L
c.847T>C
2 papers
NM_002386.4
p.F280L
c.840C>A
2 papers
NM_002386.4
p.F280L
c.840C>G
1 paper
NM_002386.4
p.F283L
c.849T>A
1 paper
NM_002386.4
p.F280S
c.839T>C
5 papers
NM_002386.4
p.F280C
c.839T>G
1 paper
NM_002386.4
p.F283L
c.849T>G
1 paper
NM_002386.4
p.L284I
c.850C>A
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