Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D117delFs

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.D117delFs
c.349delG
Surrounding Variants
1 paper
NM_002386.4
p.L116delFs
c.347delT
1 paper
NM_002386.4
p.L116delFs
c.347_348delTG
1 paper
NM_002386.4
p.Q115Q
c.345G>A
1 paper
NM_002386.4
p.D117H
c.349G>C
5 papers
NM_002386.4
p.D117A
c.350A>C
3 papers
NM_002386.4
p.D117G
c.350A>G
4 papers
NM_002386.4
p.D117V
c.350A>T
1 paper
NM_002386.4
p.D117delFs
c.351delC
10 papers
NM_002386.4
p.Q114K
c.340C>A
1 paper
NM_002386.4
p.Q114*
c.340C>T
4 papers
NM_002386.4
p.N118K
c.354T>A
3 papers
NM_002386.4
p.N118N
c.354T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."