Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R163Q

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
303 papers
NM_002386.4
p.R163Q
c.488G>A
Surrounding Variants
1 paper
NM_002386.4
p.R163G
c.487C>G
6 papers
NM_002386.4
p.R163*
c.487C>T
1 paper
NM_002386.4
p.A164T
c.490G>A
1 paper
NM_002386.4
p.R163delFs
c.487delC
11 papers
NM_002386.4
p.A164V
c.491C>T
1 paper
NM_002386.4
p.R162Q
c.485G>A
27 papers
NM_002386.4
p.R162P
c.485G>C
1 paper
NM_002386.4
p.A164A
c.492C>A
1 paper
NM_002386.4
p.R162G
c.484C>G
2 papers
NM_002386.4
p.A164A
c.492C>T
1 paper
NM_002386.4
p.R162W
c.484C>T
4 papers
NM_002386.4
p.A161A
c.483G>A
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