Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.E99Q

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.E99Q
c.295G>C
Surrounding Variants
1 paper
NM_000529.2
p.F98insFs
c.294dupT
1 paper
NM_000529.2
p.F98del1
c.292_293delAAA
1 paper
NM_000529.2
p.F98L
c.294T>G
1 paper
NM_000529.2
p.F98L
c.294T>A
1 paper
NM_000529.2
p.F98L
c.292T>C
1 paper
NM_000529.2
p.T100A
c.298A>G
1 paper
NM_000529.2
p.T101_A102insCG
c.301_305ins6
1 paper
NM_000529.2
p.T101T
c.303A>T
1 paper
NM_000529.2
p.G96R
c.286G>C
25 papers
NM_000529.2
p.D103N
c.307G>A
1 paper
NM_000529.2
p.A102delFs
c.305_306delGG
1 paper
NM_000529.2
p.R95C
c.283C>T
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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."