Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.K65N

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
8 papers
NM_002386.4
p.K65N
c.195G>C
Surrounding Variants
8 papers
NM_002386.4
p.K65N
c.195G>T
1 paper
NM_002386.4
p.K65R
c.194A>G
1 paper
NM_002386.4
p.K65E
c.193A>G
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.R67_L69del3
c.199_206del9
2 papers
NM_002386.4
p.R67_N68insCC
c.199_203ins6
1 paper
NM_002386.4
p.A64G
c.191C>G
12 papers
NM_002386.4
p.R67W
c.199C>T
2 papers
NM_002386.4
p.R67delFs
c.200delG
43 papers
NM_002386.4
p.R67Q
c.200G>A
10 papers
NM_002386.4
p.A64T
c.190G>A
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