Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.Y193*

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.Y193*
c.579T>G
Surrounding Variants
1 paper
NM_000529.2
p.Y193*
c.579T>A
1 paper
NM_000529.2
p.V194M
c.580G>A
15 papers
NM_000529.2
p.L192fs
c.574_575fs
1 paper
NM_000529.2
p.C191*
c.573C>A
1 paper
NM_000529.2
p.C191S
c.572G>C
1 paper
NM_000529.2
p.V194_H195del2
c.580_584del6
1 paper
NM_000529.2
p.C191S
c.571T>A
1 paper
NM_000529.2
p.M196delFs
c.588delC
1 paper
NM_000529.2
p.L190_C191insG
c.568_572ins3
1 paper
NM_000529.2
p.I189T
c.566T>C
7 papers
NM_000529.2
p.L198P
c.593T>C
2 papers
NM_000529.2
p.V187fs
c.559_560fs
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