Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.K65E

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.K65E
c.193A>G
Surrounding Variants
1 paper
NM_002386.4
p.K65*
c.193A>T
1 paper
NM_002386.4
p.K65delFs
c.194_195delAG
1 paper
NM_002386.4
p.K65R
c.194A>G
1 paper
NM_002386.4
p.A64G
c.191C>G
8 papers
NM_002386.4
p.K65N
c.195G>C
8 papers
NM_002386.4
p.K65N
c.195G>T
10 papers
NM_002386.4
p.A64T
c.190G>A
11 papers
NM_002386.4
p.A64S
c.190G>T
3 papers
NM_002386.4
p.I63I
c.189C>T
1 paper
NM_002386.4
p.R67_L69del3
c.199_206del9
1 paper
NM_002386.4
p.I63T
c.188T>C
3 papers
NM_002386.4
p.I63V
c.187A>G
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