Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.P72delFs

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.P72delFs
c.214delC
Surrounding Variants
1 paper
NM_002386.4
p.P72_M73del2
c.214_218del6
3 papers
NM_002386.4
p.S71L
c.212C>T
4 papers
NM_002386.4
p.P72R
c.215C>G
2 papers
NM_002386.4
p.P72L
c.215C>T
1 paper
NM_002386.4
p.S71T
c.211T>A
1 paper
NM_002386.4
p.S71A
c.211T>G
1 paper
NM_002386.4
p.H70H
c.210C>T
2 papers
NM_002386.4
p.M73L
c.217A>C
1 paper
NM_002386.4
p.H70P
c.209A>C
3 papers
NM_002386.4
p.M73V
c.217A>G
2 papers
NM_002386.4
p.M73L
c.217A>T
1 paper
NM_002386.4
p.H70Y
c.208C>T
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