Varaico: Literature-Extracted Genetic Variants

Gene:PRDM5

PRDM5

92 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are k...

Pfam Domains

PRDM2_PRaa 10–134UCSCPR domain zinc finger protein 2, PR domain
zf-C2H2aa 199–220UCSCZinc finger, C2H2 type
zf-metaa 234–255UCSCZinc-finger of C2H2 type
zf-metaa 234–255UCSCZinc-finger of C2H2 type
zf-C2H2aa 262–287UCSCZinc finger, C2H2 type
zf-C2H2aa 262–287UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 5

HGNC Alias Symbol

PFM2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 88 variants
8 papers
NM_018699.4
p.Y107C
c.320A>G
8 papers
NM_018699.4
p.V238_C239delFs
c.713_716del4
8 papers
NM_018699.4
p.R590*
c.1768C>T
7 papers
NM_018699.4
p.C325delFs
c.974delC
6 papers
NM_018699.4
p.V506fs
c.1516_1517fs
5 papers
NM_018699.4
p.K31_G32Splc
c.93+1G>A
5 papers
NM_018699.4
p.K31_G32Splc
c.93+2T>C
5 papers
NM_018699.4
p.C325fs
c.973_974fs
5 papers
NM_018699.4
p.V506_R509delFs
c.1517_1527del11
4 papers
NM_018699.4
p.K31_G32Splc
c.93+5G>A
4 papers
NM_018699.4
p.R83C
c.247C>T
4 papers
NM_018699.4
p.E134*
c.400G>T
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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."