Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.Q145*

CITED2

96 papers

RefSeq Summary

The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardia...

Pfam Domains

CITEDaa 1–270UCSCCITED

Gene Aliases

HGNC Name

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

HGNC Alias Symbol

MRG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006079.5
p.Q145*
c.433C>T
Surrounding Variants
2 papers
NM_006079.5
p.Q145H
c.435G>T
2 papers
NM_006079.5
p.Q145H
c.435G>C
1 paper
NM_006079.5
p.G143A
c.428G>C
1 paper
NM_006079.5
p.G143D
c.428G>A
1 paper
NM_006079.5
p.P140_A141del1
c.419_421delCAG
1 paper
NM_006079.5
p.A141T
c.421G>A
1 paper
NM_006079.5
p.P140P
c.420T>C
1 paper
NM_006079.5
p.P140S
c.418C>T
1 paper
NM_006079.5
p.L138insFs
c.412dupT
2 papers
NM_006079.5
p.H152H
c.456C>T
1 paper
NM_006079.5
p.D137Y
c.409G>T
1 paper
NM_006079.5
p.N157N
c.471C>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."