Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.H260L

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.H260L
c.779A>T
Surrounding Variants
21 papers
NM_002386.4
p.H260P
c.779A>C
2 papers
NM_002386.4
p.H260R
c.779A>G
1 paper
NM_002386.4
p.H260Y
c.778C>T
1 paper
NM_002386.4
p.L259P
c.776T>C
1 paper
NM_002386.4
p.L259L
c.775C>T
1 paper
NM_002386.4
p.L259fs
c.775_776fs
1 paper
NM_002386.4
p.T262S
c.784A>T
1 paper
NM_002386.4
p.F258L
c.774C>A
1 paper
NM_002386.4
p.F258L
c.774C>G
1 paper
NM_002386.4
p.T262I
c.785C>T
1 paper
NM_002386.4
p.F258delFs
c.774delC
1 paper
NM_002386.4
p.F258L
c.772T>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."