Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L305L

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.L305L
c.915C>T
Surrounding Variants
15 papers
NM_002386.4
p.R306C
c.916C>T
1 paper
NM_002386.4
p.L305R
c.914T>G
1 paper
NM_002386.4
p.L305F
c.913C>T
19 papers
NM_002386.4
p.R306H
c.917G>A
1 paper
NM_002386.4
p.R307del1
c.919_920delAGG
1 paper
NM_002386.4
p.R307_T308del2
c.919_923del6
1 paper
NM_002386.4
p.L305_R306del2
c.913_917del6
8 papers
NM_002386.4
p.R307G
c.919A>G
1 paper
NM_002386.4
p.E304G
c.911A>G
1 paper
NM_002386.4
p.E304V
c.911A>T
1 paper
NM_002386.4
p.R307K
c.920G>A
1 paper
NM_002386.4
p.R307T
c.920G>C
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