Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.S65C

MC2R

286 papers

RefSeq Summary

MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from ...

Pfam Domains

7tm_1aa 41–276UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 2 receptor

HGNC Alias Symbol

ACTHR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000529.2
p.S65C
c.193A>T
Surrounding Variants
1 paper
NM_000529.2
p.C64S
c.191G>C
1 paper
NM_000529.2
p.C64S
c.190T>A
1 paper
NM_000529.2
p.S65delFs
c.194_195delGC
1 paper
NM_000529.2
p.A67S
c.199G>T
1 paper
NM_000529.2
p.A67D
c.200C>A
3 papers
NM_000529.2
p.F62C
c.185T>G
4 papers
NM_000529.2
p.A67A
c.201C>T
1 paper
NM_000529.2
p.F62I
c.184T>A
1 paper
NM_000529.2
p.F61Y
c.182T>A
3 papers
NM_000529.2
p.S69C
c.206C>G
1 paper
NM_000529.2
p.S69delFs
c.206delG
2 papers
NM_000529.2
p.Y60C
c.179A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."