Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.N29insFs

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
51 papers
NM_002386.4
p.N29insFs
c.86_87insA
Surrounding Variants
5 papers
NM_002386.4
p.N29fs
c.85_86fs
1 paper
NM_002386.4
p.N29D
c.85A>G
8 papers
NM_002386.4
p.N29fs
c.85_86fs
1 paper
NM_002386.4
p.A28insFs
c.83_84insA
1 paper
NM_002386.4
p.A28V
c.83C>T
1 paper
NM_002386.4
p.N29S
c.86A>G
2 papers
NM_002386.4
p.N29I
c.86A>T
1 paper
NM_002386.4
p.A28T
c.82G>A
2 papers
NM_002386.4
p.A28fs
c.82_83fs
2 papers
NM_002386.4
p.N29K
c.87C>A
3 papers
NM_002386.4
p.N29_Q30insFs
c.87_88insA
2 papers
NM_002386.4
p.N29K
c.87C>G
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