Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.N68S

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.N68S
c.203A>G
Surrounding Variants
1 paper
NM_002386.4
p.L69V
c.205C>G
43 papers
NM_002386.4
p.R67Q
c.200G>A
4 papers
NM_002386.4
p.L69P
c.206T>C
2 papers
NM_002386.4
p.R67_N68insCC
c.199_203ins6
12 papers
NM_002386.4
p.R67W
c.199C>T
2 papers
NM_002386.4
p.R67delFs
c.200delG
2 papers
NM_002386.4
p.L69L
c.207G>A
1 paper
NM_002386.4
p.H70delFs
c.208delC
1 paper
NM_002386.4
p.H70Y
c.208C>T
1 paper
NM_002386.4
p.R67_L69del3
c.199_206del9
1 paper
NM_002386.4
p.H70P
c.209A>C
1 paper
NM_002386.4
p.H70H
c.210C>T
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