Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A222D

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.A222D
c.665C>A
Surrounding Variants
1 paper
NM_002386.4
p.A222V
c.665C>T
1 paper
NM_002386.4
p.R223_L224del2
c.667_671del6
4 papers
NM_002386.4
p.A222T
c.664G>A
1 paper
NM_002386.4
p.A222S
c.664G>T
2 papers
NM_002386.4
p.R223G
c.667C>G
16 papers
NM_002386.4
p.R223W
c.667C>T
3 papers
NM_002386.4
p.I221I
c.663C>T
1 paper
NM_002386.4
p.L224_R227del4
c.670_680del12
7 papers
NM_002386.4
p.R223Q
c.668G>A
1 paper
NM_002386.4
p.R223P
c.668G>C
5 papers
NM_002386.4
p.I221T
c.662T>C
1 paper
NM_002386.4
p.A222delFs
c.664_665delGC
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