Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A164T

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.A164T
c.490G>A
Surrounding Variants
11 papers
NM_002386.4
p.A164V
c.491C>T
1 paper
NM_002386.4
p.A164A
c.492C>A
2 papers
NM_002386.4
p.A164A
c.492C>T
303 papers
NM_002386.4
p.R163Q
c.488G>A
1 paper
NM_002386.4
p.R163G
c.487C>G
6 papers
NM_002386.4
p.R163*
c.487C>T
3 papers
NM_002386.4
p.V165I
c.493G>A
1 paper
NM_002386.4
p.R163delFs
c.487delC
1 paper
NM_002386.4
p.R162Q
c.485G>A
27 papers
NM_002386.4
p.R162P
c.485G>C
1 paper
NM_002386.4
p.V165V
c.495T>C
3 papers
NM_002386.4
p.A166insFs
c.496_497insG
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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."