Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.Q106L

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.Q106L
c.317A>T
Surrounding Variants
1 paper
NM_006079.5
p.G108A
c.323G>C
2 papers
NM_006079.5
p.P101S
c.301C>T
1 paper
NM_006079.5
p.Q117*
c.349C>T
2 papers
NM_006079.5
p.Q117L
c.350A>T
1 paper
NM_006079.5
p.Q115_Q117del3
c.343_350del9
1 paper
NM_006079.5
p.R92R
c.276G>A
2 papers
NM_006079.5
p.Q117_L119del3
c.349_356del9
1 paper
NM_006079.5
p.N120K
c.360C>G
1 paper
NM_006079.5
p.R92W
c.274A>T
1 paper
NM_006079.5
p.R92G
c.274A>G
1 paper
NM_006079.5
p.N121Y
c.361A>T
1 paper
NM_006079.5
p.A91S
c.271G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."