Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.Q7K

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.Q7K
c.19C>A
Surrounding Variants
2 papers
NM_002386.4
p.Q7P
c.20A>C
1 paper
NM_002386.4
p.Q7R
c.20A>G
1 paper
NM_002386.4
p.Q7L
c.20A>T
1 paper
NM_002386.4
p.R8*
c.22A>T
1 paper
NM_002386.4
p.S6_Q7del2
c.16_20del6
3 papers
NM_002386.4
p.R8K
c.23G>A
1 paper
NM_002386.4
p.R8T
c.23G>C
2 papers
NM_002386.4
p.R8S
c.24A>C
1 paper
NM_002386.4
p.R8S
c.24A>T
1 paper
NM_002386.4
p.R9G
c.25A>G
1 paper
NM_002386.4
p.G5_S6insA
c.13_17ins3
1 paper
NM_002386.4
p.G5*
c.13G>T
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