Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.T242S

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.T242S
c.724A>T
Surrounding Variants
1 paper
NM_002386.4
p.T242N
c.725C>A
1 paper
NM_002386.4
p.T242S
c.725C>G
4 papers
NM_002386.4
p.T242I
c.725C>T
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.V241A
c.722T>C
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.V241I
c.721G>A
1 paper
NM_002386.4
p.L243H
c.728T>A
2 papers
NM_002386.4
p.A240A
c.720T>C
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