Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.F178I

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.F178I
c.532T>A
Surrounding Variants
6 papers
NM_000529.2
p.S180*
c.539C>A
1 paper
NM_000529.2
p.L181V
c.541C>G
1 paper
NM_000529.2
p.F182L
c.546C>G
1 paper
NM_000529.2
p.P183L
c.548C>T
1 paper
NM_000529.2
p.P183insFs
c.548_549insTT
1 paper
NM_000529.2
p.P183P
c.549G>A
1 paper
NM_000529.2
p.V172M
c.514G>A
1 paper
NM_000529.2
p.H170_H171del2
c.508_512del6
1 paper
NM_000529.2
p.S169_H171del3
c.505_512del9
2 papers
NM_000529.2
p.M185L
c.553A>T
7 papers
NM_000529.2
p.H170L
c.509A>T
1 paper
NM_000529.2
p.S169A
c.505T>G
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