Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.D254D

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.D254D
c.762T>C
Surrounding Variants
3 papers
NM_006079.5
p.T257A
c.769A>G
1 paper
NM_006079.5
p.Q264H
c.792G>T
1 paper
NM_006079.5
p.Q264H
c.792G>C
1 paper
NM_006079.5
p.P265T
c.793C>A
1 paper
NM_006079.5
p.P265L
c.794C>T
1 paper
NM_006079.5
p.P265P
c.795C>T
2 papers
NM_006079.5
p.R239insFs
c.716_717insG
1 paper
NM_006079.5
p.R239H
c.716G>A
1 paper
NM_006079.5
p.G236fs
c.706_707fs
3 papers
NM_006079.5
p.E234A
c.701A>C
1 paper
NM_006079.5
p.L231_I233del0
c.691_699del9
2 papers
NM_006079.5
p.D221_S230del0
c.661_690del30
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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."