Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.M63V

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.M63V
c.187A>G
Surrounding Variants
1 paper
NM_006079.5
p.M63L
c.187A>T
1 paper
NM_006079.5
p.N62S
c.185A>G
1 paper
NM_006079.5
p.G59_A60delFs
c.177_178delCG
1 paper
NM_006079.5
p.H57_A60delFs
c.170_179del10
1 paper
NM_006079.5
p.A65A
c.195C>A
1 paper
NM_006079.5
p.T66ins5
c.196_197ins15
1 paper
NM_006079.5
p.E54_H55delFs
c.162_163delGC
1 paper
NM_006079.5
p.E54fs
c.160_161fs
1 paper
NM_006079.5
p.H71H
c.213T>C
1 paper
NM_006079.5
p.G53delFs
c.157delC
1 paper
NM_006079.5
p.L51L
c.153A>C
2 papers
NM_006079.5
p.G76R
c.226G>A
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