Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.H39del1

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
5 papers
NM_006079.5
p.H39del1
c.115_116delGTG
Surrounding Variants
1 paper
NM_006079.5
p.Q40H
c.120G>T
1 paper
NM_006079.5
p.Q40H
c.120G>C
1 paper
NM_006079.5
p.Q40Q
c.120G>A
1 paper
NM_006079.5
p.H39_Q40del2
c.115_119del6
1 paper
NM_006079.5
p.H39H
c.117C>T
1 paper
NM_006079.5
p.H38H
c.114C>T
1 paper
NM_006079.5
p.P36P
c.108C>G
1 paper
NM_006079.5
p.P36R
c.107C>G
1 paper
NM_006079.5
p.Q45Q
c.135G>A
1 paper
NM_006079.5
p.F33C
c.98T>G
1 paper
NM_006079.5
p.A50T
c.148G>A
3 papers
NM_006079.5
p.G31R
c.91G>A
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