Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.T112M

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
71 papers
NM_005912.3
p.T112M
c.335C>T
Surrounding Variants
9 papers
NM_005912.3
p.T112K
c.335C>A
2 papers
NM_005912.3
p.T112T
c.336G>A
1 paper
NM_005912.3
p.T112fs
c.334_335fs
2 papers
NM_005912.3
p.T112A
c.334A>G
2 papers
NM_005912.3
p.D111_T112insFs
c.333_334insA
1 paper
NM_005912.3
p.D111V
c.332A>T
1 paper
NM_005912.3
p.D113insFs
c.337dupG
1 paper
NM_005912.3
p.D111N
c.331G>A
1 paper
NM_005912.3
p.A114T
c.340G>A
2 papers
NM_005912.3
p.A114V
c.341C>T
1 paper
NM_005912.3
p.T110R
c.329C>G
2 papers
NM_005912.3
p.Q115*
c.343C>T
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