Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D84E

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
294 papers
NM_002386.4
p.D84E
c.252C>G
Surrounding Variants
294 papers
NM_002386.4
p.D84E
c.252C>A
1 paper
NM_002386.4
p.D84A
c.251A>C
1 paper
NM_002386.4
p.D84G
c.251A>G
1 paper
NM_002386.4
p.D84V
c.251A>T
1 paper
NM_002386.4
p.L85delFs
c.254delT
14 papers
NM_002386.4
p.D84N
c.250G>A
3 papers
NM_002386.4
p.D84H
c.250G>C
2 papers
NM_002386.4
p.D84_L85insA
c.250_254ins3
1 paper
NM_002386.4
p.D84Y
c.250G>T
3 papers
NM_002386.4
p.S83S
c.249G>A
1 paper
NM_002386.4
p.S83*
c.248C>A
20 papers
NM_002386.4
p.L86_V87insA
c.256_260ins3
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