Varaico: Literature-Extracted Genetic Variants

Gene:TRIM42
Variant:p.R48L

TRIM42

78 papers

RefSeq Summary

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provi...

Pfam Domains

zf-B_boxaa 285–326UCSCB-box zinc finger
fn3aa 612–697UCSCFibronectin type III domain

Gene Aliases

HGNC Name

tripartite motif containing 42

HGNC Alias Symbols

FLJ40097; PPP1R40; T4A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152616.5
p.R48L
c.143G>T
Surrounding Variants
1 paper
NM_152616.5
p.R48Q
c.143G>A
1 paper
NM_152616.5
p.R48R
c.142C>A
2 papers
NM_152616.5
p.R48W
c.142C>T
1 paper
NM_152616.5
p.R48R
c.144G>A
1 paper
NM_152616.5
p.P61S
c.181C>T
1 paper
NM_152616.5
p.R35Q
c.104G>A
1 paper
NM_152616.5
p.C63S
c.187T>A
1 paper
NM_152616.5
p.C63S
c.188G>C
1 paper
NM_152616.5
p.C68W
c.204C>G
1 paper
NM_152616.5
p.P74S
c.220C>T
1 paper
NM_152616.5
p.R97H
c.290G>A
1 paper
NM_152616.5
p.I100_I101insFs
c.300_301ins4
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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."