Varaico: Literature-Extracted Genetic Variants

Gene:TRIM63
Variant:p.A48V

TRIM63

131 papers

RefSeq Summary

This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices...

Pfam Domains

zf-RING_UBOXaa 23–76UCSCRING-type zinc-finger
zf-B_boxaa 117–159UCSCB-box zinc finger

Gene Aliases

HGNC Name

tripartite motif containing 63

HGNC Previous Symbol

RNF28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_032588.4
p.A48V
c.143C>T
Surrounding Variants
1 paper
NM_032588.4
p.C47Y
c.140G>A
2 papers
NM_032588.4
p.R45R
c.135G>C
1 paper
NM_032588.4
p.D50_I51delins
c.150_151delinsTG
1 paper
NM_032588.4
p.R45insFs
c.133_134insA
1 paper
NM_032588.4
p.R45insFs
c.133_134insAA
1 paper
NM_032588.4
p.Q53_A54Splc
c.159+1G>A
1 paper
NM_032588.4
p.Q53_A54Splc
c.159+2T>C
1 paper
NM_032588.4
p.Q53_A54Splc
c.159+4A>T
2 papers
NM_032588.4
p.C39G
c.115T>G
1 paper
NM_032588.4
p.C39fs
c.115_116fs
1 paper
NM_032588.4
p.P38P
c.114G>C
1 paper
NM_032588.4
p.P38_C39ins4
c.112_116ins12
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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."