Varaico: Literature-Extracted Genetic Variants

Gene:TRIM63
Variant:p.E126D

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
4 papers
NM_032588.4
p.E126D
c.378A>C
Surrounding Variants
4 papers
NM_032588.4
p.E126D
c.378A>T
1 paper
NM_032588.4
p.D127N
c.379G>A
14 papers
NM_032588.4
p.I130M
c.390C>G
1 paper
NM_032588.4
p.N131insFs
c.391_392dupAA
1 paper
NM_032588.4
p.H119_P120insFs
c.357_358insG
1 paper
NM_032588.4
p.S118_H119insFs
c.354_355insTG
1 paper
NM_032588.4
p.G117insFs
c.349_350insCC
1 paper
NM_032588.4
p.K116N
c.348G>C
1 paper
NM_032588.4
p.R112Q
c.335G>A
4 papers
NM_032588.4
p.C145Y
c.434G>A
4 papers
NM_032588.4
p.K146fs
c.436_437fs
1 paper
NM_032588.4
p.V147fs
c.439_440fs
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