Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L99P

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
42 papers
NM_002386.4
p.L99P
c.296T>C
Surrounding Variants
7 papers
NM_002386.4
p.L99I
c.295C>A
1 paper
NM_002386.4
p.L99V
c.295C>G
2 papers
NM_002386.4
p.L99F
c.295C>T
1 paper
NM_002386.4
p.L100delFs
c.298_299delCT
1 paper
NM_002386.4
p.L101del1
c.301_302delCTG
1 paper
NM_002386.4
p.L100M
c.298C>A
1 paper
NM_002386.4
p.I98M
c.294C>G
1 paper
NM_002386.4
p.L100L
c.298C>T
5 papers
NM_002386.4
p.L100P
c.299T>C
1 paper
NM_002386.4
p.L99delFs
c.295delC
4 papers
NM_002386.4
p.I98V
c.292A>G
1 paper
NM_002386.4
p.L99_L100del1
c.297_299delCCT
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