Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.H170_H171del2

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.H170_H171del2
c.508_512del6
Surrounding Variants
1 paper
NM_000529.2
p.V172M
c.514G>A
1 paper
NM_000529.2
p.S169_H171del3
c.505_512del9
7 papers
NM_000529.2
p.H170L
c.509A>T
1 paper
NM_000529.2
p.S169A
c.505T>G
2 papers
NM_000529.2
p.I167N
c.500T>A
1 paper
NM_000529.2
p.I167V
c.499A>G
1 paper
NM_000529.2
p.F178I
c.532T>A
1 paper
NM_000529.2
p.V166L
c.496G>C
1 paper
NM_000529.2
p.M165L
c.493A>T
1 paper
NM_000529.2
p.T164I
c.491C>T
1 paper
NM_000529.2
p.T164N
c.491C>A
2 papers
NM_000529.2
p.T164A
c.490A>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."