Varaico: Literature-Extracted Genetic Variants

Gene:PJA1
Variant:p.S334R

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
Selected Variant
1 paper
NM_001032396.4
p.S334R
c.1002T>A
Surrounding Variants
1 paper
NM_001032396.4
p.S334R
c.1002T>G
1 paper
NM_001032396.4
p.S334R
c.1000A>C
1 paper
NM_001032396.4
p.W338*
c.1014G>A
2 papers
NM_145119.4
p.R376C
c.1126C>T
1 paper
NM_001032396.4
p.R287Q
c.860G>A
1 paper
NM_001032396.4
p.R286*
c.856C>T
1 paper
NM_001032396.4
p.G420R
c.1258G>C
1 paper
NM_001032396.4
p.G420R
c.1258G>A
1 paper
NM_001032396.4
p.G248C
c.742G>T
1 paper
NM_001032396.4
p.M429I
c.1287G>T
1 paper
NM_001032396.4
p.M429I
c.1287G>C
1 paper
NM_001032396.4
p.M429I
c.1287G>A
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