Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.L20P

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.L20P
c.59T>C
Surrounding Variants
1 paper
NM_006079.5
p.H22Y
c.64C>T
1 paper
NM_006079.5
p.H22H
c.66T>C
1 paper
NM_006079.5
p.G16A
c.47G>C
1 paper
NM_006079.5
p.G16insFs
c.46_47insT
1 paper
NM_006079.5
p.F13_P14delFs
c.39_40delGG
3 papers
NM_006079.5
p.G31R
c.91G>A
6 papers
NM_006079.5
p.A7A
c.21C>A
1 paper
NM_006079.5
p.F33C
c.98T>G
1 paper
NM_006079.5
p.M5L
c.13A>C
1 paper
NM_006079.5
p.H4H
c.12T>C
1 paper
NM_006079.5
p.P36R
c.107C>G
1 paper
NM_006079.5
p.P36P
c.108C>G
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