Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.G180delFs

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.G180delFs
c.539delC
Surrounding Variants
1 paper
NM_006079.5
p.G180D
c.539G>A
1 paper
NM_006079.5
p.S181N
c.542G>A
1 paper
NM_006079.5
p.S170_S179del10
c.508_536del30
4 papers
NM_006079.5
p.S170_S179del0
c.510_536del27
4 papers
NM_006079.5
p.G178del1
c.532_533delGCC
1 paper
NM_006079.5
p.G177_G178del2
c.529_533del6
1 paper
NM_006079.5
p.G178_S179ins9
c.534_535ins27
3 papers
NM_006079.5
p.G178_S179ins9
c.532_536ins27
1 paper
NM_006079.5
p.S183L
c.548C>T
7 papers
NM_006079.5
p.G184S
c.550G>A
1 paper
NM_006079.5
p.G184D
c.551G>A
1 paper
NM_006079.5
p.T175I
c.524C>T
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."