Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.I5N

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.I5N
c.14T>A
Surrounding Variants
1 paper
NM_000529.2
p.I5L
c.13A>C
1 paper
NM_000529.2
p.N6fs
c.16_17fs
1 paper
NM_000529.2
p.S7T
c.19T>A
1 paper
NM_000529.2
p.N6delFs
c.18delG
1 paper
NM_000529.2
p.K2_H3delFs
c.6_7delGC
3 papers
NM_000529.2
p.H3Y
c.7C>T
1 paper
NM_000529.2
p.S7insFs
c.21dupG
1 paper
NM_000529.2
p.N6_S7del2
c.16_20del6
1 paper
NM_000529.2
p.N6_Y8delFs
c.17_23del7
7 papers
NM_000529.2
p.M1I
c.3G>T
8 papers
NM_000529.2
p.M1insFs
c.2_3insT
6 papers
NM_000529.2
p.M1I
c.3G>C
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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."