Varaico: Literature-Extracted Genetic Variants

Gene:CITED2

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
1–12 of 135 variants
9 papers
NM_006079.5
p.S192G
c.574A>G
7 papers
NM_006079.5
p.G184S
c.550G>A
6 papers
NM_006079.5
p.A7A
c.21C>A
5 papers
NM_006079.5
p.H39del1
c.115_116delGTG
4 papers
NM_006079.5
p.H160L
c.479A>T
4 papers
NM_006079.5
p.G178del1
c.532_533delGCC
4 papers
NM_006079.5
p.S170_S179del0
c.510_536del27
4 papers
NM_006079.5
p.P202T
c.604C>A
3 papers
NM_006079.5
p.G31R
c.91G>A
3 papers
NM_006079.5
p.G178_S179ins9
c.532_536ins27
3 papers
NM_006079.5
p.S192fs
c.574_575fs
3 papers
NM_006079.5
p.E234A
c.701A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."