Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.E102delFs

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.E102delFs
c.305_306delAG
Surrounding Variants
5 papers
NM_002386.4
p.E102_A111del0
c.304_333del30
2 papers
NM_002386.4
p.E102delFs
c.306delG
1 paper
NM_002386.4
p.L101M
c.301C>A
1 paper
NM_002386.4
p.L101_E102insCG
c.301_305ins6
1 paper
NM_002386.4
p.A103delFs
c.307_308delGC
2 papers
NM_002386.4
p.A103T
c.307G>A
5 papers
NM_002386.4
p.L100P
c.299T>C
1 paper
NM_002386.4
p.L100M
c.298C>A
11 papers
NM_002386.4
p.A103V
c.308C>T
1 paper
NM_002386.4
p.L100L
c.298C>T
5 papers
NM_002386.4
p.A103A
c.309C>T
1 paper
NM_002386.4
p.L100delFs
c.298_299delCT
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