Varaico: Literature-Extracted Genetic Variants

Gene:TRIM54
Variant:p.L163P

TRIM54

45 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and...

Pfam Domains

zf-RING_UBOXaa 26–79UCSCRING-type zinc-finger
zf-B_boxaa 121–163UCSCB-box zinc finger

Gene Aliases

HGNC Name

tripartite motif containing 54

HGNC Previous Symbol

RNF30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_187841.3
p.L163P
c.488T>C
Surrounding Variants
1 paper
NM_187841.3
p.D157N
c.469G>A
1 paper
NM_187841.3
p.E132*
c.394G>T
2 papers
NM_187841.3
p.P115S
c.343C>T
5 papers
NM_187841.3
p.D106N
c.316G>A
1 paper
NM_187841.3
p.R97Q
c.290G>A
2 papers
NM_187841.3
p.G94C
c.280G>T
1 paper
NM_187841.3
p.V92I
c.274G>A
1 paper
NM_187841.3
p.L61L
c.181C>T
1 paper
NM_187841.3
p.P60fs
c.178_179fs
1 paper
NM_187841.3
p.I178T
c.533T>C
1 paper
NM_187841.3
p.C199S
c.596G>C
1 paper
NM_187841.3
p.E203E
c.609G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."