Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.S204S

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.S204S
c.612C>G
Surrounding Variants
1 paper
NM_006079.5
p.S204S
c.612C>T
4 papers
NM_006079.5
p.P202T
c.604C>A
2 papers
NM_006079.5
p.S198_G199del2
c.592_596del6
2 papers
NM_006079.5
p.G199del1
c.595_596delGCC
2 papers
NM_006079.5
p.P209P
c.627C>G
1 paper
NM_006079.5
p.A210A
c.630T>A
1 paper
NM_006079.5
p.S196G
c.586A>G
1 paper
NM_006079.5
p.S196_G197ins15
c.586_590ins45
2 papers
NM_006079.5
p.G195del1
c.583_584delGCC
1 paper
NM_006079.5
p.G194_G195del0
c.580_585del6
2 papers
NM_006079.5
p.G194G
c.582C>T
1 paper
NM_006079.5
p.G194S
c.580G>A
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