Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R213_Q219delFs

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
2 papers
NM_002386.4
p.R213_Q219delFs
c.637_655del19
Surrounding Variants
1 paper
NM_002386.4
p.A212fs
c.634_635fs
1 paper
NM_002386.4
p.A214_R223del0
c.640_669del30
2 papers
NM_002386.4
p.A212A
c.636C>G
1 paper
NM_002386.4
p.L211_A212del1
c.633_635delGGC
1 paper
NM_002386.4
p.R213R
c.637C>A
1 paper
NM_002386.4
p.L211V
c.631C>G
46 papers
NM_002386.4
p.R213W
c.637C>T
1 paper
NM_002386.4
p.A214delFs
c.640delG
2 papers
NM_002386.4
p.R213Q
c.638G>A
1 paper
NM_002386.4
p.M210_L211insFs
c.630_631insA
1 paper
NM_002386.4
p.A214del1
c.640_641delGCC
1 paper
NM_002386.4
p.M210T
c.629T>C
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