Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.N121N

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.N121N
c.363C>T
Surrounding Variants
1 paper
NM_006079.5
p.Q122E
c.364C>G
1 paper
NM_006079.5
p.N121Y
c.361A>T
1 paper
NM_006079.5
p.N120K
c.360C>G
2 papers
NM_006079.5
p.Q117_L119del3
c.349_356del9
1 paper
NM_006079.5
p.N125S
c.374A>G
1 paper
NM_006079.5
p.Q115_Q117del3
c.343_350del9
2 papers
NM_006079.5
p.Q117L
c.350A>T
1 paper
NM_006079.5
p.Q117*
c.349C>T
1 paper
NM_006079.5
p.H127H
c.381C>T
1 paper
NM_006079.5
p.G108A
c.323G>C
1 paper
NM_006079.5
p.D137Y
c.409G>T
1 paper
NM_006079.5
p.Q106L
c.317A>T
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