Varaico: Literature-Extracted Genetic Variants

Gene:PDCD7
Variant:p.R222W

PDCD7

31 papers

RefSeq Summary

This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component of the minor U12-type spliceosome responsible for catalyzing pre-mRNA s...

Pfam Domains

PDCD7aa 169–482UCSCProgrammed cell death protein 7

Gene Aliases

HGNC Name

programmed cell death 7

HGNC Alias Symbols

HES18; ES18; 59K

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005707.2
p.R222W
c.664C>T
Surrounding Variants
1 paper
NM_005707.2
p.Q228R
c.683A>G
1 paper
NM_005707.2
p.Q193R
c.578A>G
1 paper
NM_005707.2
p.E259K
c.775G>A
1 paper
NM_005707.2
p.A262A
c.786A>G
2 papers
NM_005707.2
p.R180Q
c.539G>A
1 paper
NM_005707.2
p.A267A
c.801A>G
1 paper
NM_005707.2
p.R276H
c.827G>A
1 paper
NM_005707.2
p.T165A
c.493A>G
1 paper
NM_005707.2
p.V150V
c.450G>A
1 paper
NM_005707.2
p.W146C
c.438G>T
1 paper
NM_005707.2
p.W146C
c.438G>C
1 paper
NM_005707.2
p.Q145R
c.434A>G
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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."