Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.T244_I245insFs

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.I245_L246insFs
c.733_736dup4
Surrounding Variants
1 paper
NM_002386.4
p.L243H
c.728T>A
1 paper
NM_002386.4
p.I245insFs
c.733_734ins4
1 paper
NM_002386.4
p.I245V
c.733A>G
1 paper
NM_002386.4
p.L243F
c.727C>T
1 paper
NM_002386.4
p.L243delFs
c.728delT
1 paper
NM_002386.4
p.T244_I245del2
c.730_734del6
1 paper
NM_002386.4
p.T242_L243insFs
c.726_727insA
3 papers
NM_002386.4
p.T242T
c.726C>T
1 paper
NM_002386.4
p.T242N
c.725C>A
1 paper
NM_002386.4
p.L246_L247ins0
c.737_739dupTGC
1 paper
NM_002386.4
p.T242S
c.725C>G
6 papers
NM_002386.4
p.I245I
c.735C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."