Varaico: Literature-Extracted Genetic Variants

Gene:PJA1

PJA1

29 papers

RefSeq Summary

This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with t...

Pfam Domains

zf-RING_2aa 593–636UCSCRing finger domain

Gene Aliases

HGNC Name

praja ring finger ubiquitin ligase 1

HGNC Alias Symbols

FLJ11830; RNF70; PRAJA1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
1 paper
NM_001032396.4
p.R3S
c.9A>T
1 paper
NM_001032396.4
p.R3S
c.9A>C
1 paper
NM_001032396.4
p.P6A
c.16C>G
1 paper
NM_001032396.4
p.K11R
c.32A>G
1 paper
NM_001032396.4
p.D26N
c.76G>A
1 paper
NM_001032396.4
p.P46S
c.136C>T
1 paper
NM_001032396.4
p.S52L
c.155C>T
1 paper
NM_001032396.4
p.E72K
c.214G>A
1 paper
NM_001032396.4
p.K90R
c.269A>G
1 paper
NM_001032396.4
p.A107V
c.320C>T
1 paper
NM_001032396.4
p.P111A
c.331C>G
1 paper
NM_001032396.4
p.S153F
c.458C>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."