Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A175T

MC4R

858 papers

RefSeq Summary

The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by...

Pfam Domains

7tm_1aa 61–302UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 4 receptor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
44 papers
NM_005912.3
p.A175T
c.523G>A
Surrounding Variants
18 papers
NM_005912.3
p.W174C
c.522G>T
18 papers
NM_005912.3
p.W174C
c.522G>C
8 papers
NM_005912.3
p.W174*
c.522G>A
2 papers
NM_005912.3
p.A175V
c.524C>T
1 paper
NM_005912.3
p.A175delFs
c.523delC
9 papers
NM_005912.3
p.W174*
c.521G>A
2 papers
NM_005912.3
p.A176V
c.527C>T
1 paper
NM_005912.3
p.I173I
c.519C>T
1 paper
NM_005912.3
p.I173M
c.519C>G
1 paper
NM_005912.3
p.I173T
c.518T>C
1 paper
NM_005912.3
p.I173N
c.518T>A
1 paper
NM_005912.3
p.C177F
c.530G>T
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