Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.T166N

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.T166N
c.497C>A
Surrounding Variants
1 paper
NM_006079.5
p.G162_G163del2
c.484_488del6
1 paper
NM_006079.5
p.G169A
c.506G>C
1 paper
NM_006079.5
p.S170S
c.510G>C
1 paper
NM_006079.5
p.S161del1
c.481_482delGCT
1 paper
NM_006079.5
p.G171A
c.512G>C
1 paper
NM_006079.5
p.G171insFs
c.512_513insGC
1 paper
NM_006079.5
p.G172D
c.515G>A
4 papers
NM_006079.5
p.H160L
c.479A>T
1 paper
NM_006079.5
p.N157N
c.471C>T
1 paper
NM_006079.5
p.T175I
c.524C>T
3 papers
NM_006079.5
p.G178_S179ins9
c.532_536ins27
1 paper
NM_006079.5
p.G178_S179ins9
c.534_535ins27
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