Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.Y74C

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.Y74C
c.221A>G
Surrounding Variants
1 paper
NM_002386.4
p.C75del1
c.223_224delTGC
2 papers
NM_002386.4
p.Y74*
c.222C>A
2 papers
NM_002386.4
p.Y74*
c.222C>G
1 paper
NM_002386.4
p.C75_F76delFs
c.224_227del4
1 paper
NM_002386.4
p.Y74H
c.220T>C
2 papers
NM_002386.4
p.M73I
c.219G>A
2 papers
NM_002386.4
p.M73I
c.219G>C
2 papers
NM_002386.4
p.M73I
c.219G>T
3 papers
NM_002386.4
p.C75_A81delFs
c.225_243del19
27 papers
NM_002386.4
p.M73K
c.218T>A
2 papers
NM_002386.4
p.M73T
c.218T>C
1 paper
NM_002386.4
p.M73delFs
c.219delG
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