Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.H82R

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.H82R
c.245A>G
Surrounding Variants
1 paper
NM_006079.5
p.P84fs
c.250_251fs
1 paper
NM_006079.5
p.P84L
c.251C>T
1 paper
NM_006079.5
p.T77A
c.229A>G
2 papers
NM_006079.5
p.G76R
c.226G>A
1 paper
NM_006079.5
p.A91S
c.271G>T
1 paper
NM_006079.5
p.R92W
c.274A>T
1 paper
NM_006079.5
p.R92G
c.274A>G
1 paper
NM_006079.5
p.R92R
c.276G>A
1 paper
NM_006079.5
p.H71H
c.213T>C
1 paper
NM_006079.5
p.T66ins5
c.196_197ins15
1 paper
NM_006079.5
p.A65A
c.195C>A
2 papers
NM_006079.5
p.P101S
c.301C>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."