Varaico: Literature-Extracted Genetic Variants

Gene:PJA1
Variant:p.E171delFs

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.E171delFs
c.513delC
Surrounding Variants
1 paper
NM_001032396.4
p.E171E
c.513G>A
2 papers
NM_145119.4
p.S208F
c.623C>T
NM_001032396.4
p.S153F
c.458C>T
1 paper
NM_001032396.4
p.S195R
c.583A>C
1 paper
NM_001032396.4
p.S195R
c.585T>G
1 paper
NM_001032396.4
p.S195R
c.585T>A
1 paper
NM_001032396.4
p.I218fs
c.652_653fs
1 paper
NM_001032396.4
p.D227N
c.679G>A
1 paper
NM_001032396.4
p.P111A
c.331C>G
1 paper
NM_001032396.4
p.A107V
c.320C>T
1 paper
NM_001032396.4
p.G248C
c.742G>T
1 paper
NM_001032396.4
p.K90R
c.269A>G
1 paper
NM_001032396.4
p.E72K
c.214G>A
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