Varaico: Literature-Extracted Genetic Variants

Gene:PDCD7

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
1–12 of 33 variants
2 papers
NM_005707.2
p.R180Q
c.539G>A
1 paper
NM_005707.2
p.Q18P
c.53A>C
1 paper
NM_005707.2
p.P20P
c.60G>C
1 paper
NM_005707.2
p.P22S
c.64C>T
1 paper
NM_005707.2
p.P28L
c.83C>T
1 paper
NM_005707.2
p.Q43P
c.128A>C
1 paper
NM_005707.2
p.G50R
c.148G>A
1 paper
NM_005707.2
p.P59L
c.176C>T
1 paper
NM_005707.2
p.A66S
c.196G>T
1 paper
NM_005707.2
p.F80Y
c.239T>A
1 paper
NM_005707.2
p.P85L
c.254C>T
1 paper
NM_005707.2
p.L133H
c.398T>A
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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."