Varaico: Literature-Extracted Genetic Variants

Gene:TRIM63
Variant:p.Q247*

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
39 papers
NM_032588.4
p.Q247*
c.739C>T
Surrounding Variants
1 paper
NM_032588.4
p.L245L
c.735C>T
1 paper
NM_032588.4
p.Q247del1
c.739_740delCTG
1 paper
NM_032588.4
p.I242M
c.726C>G
1 paper
NM_032588.4
p.Q250_L253delFs
c.748_757del10
2 papers
NM_032588.4
p.D254N
c.760G>A
2 papers
NM_032588.4
p.Q248_L253del6
c.742_758del18
1 paper
NM_032588.4
p.K238R
c.713A>G
1 paper
NM_032588.4
p.S256C
c.767C>G
5 papers
NM_032588.4
p.K237E
c.709A>G
3 papers
NM_032588.4
p.E261*
c.781G>T
1 paper
NM_032588.4
p.Q233K
c.697C>A
5 papers
NM_032588.4
p.T232M
c.695C>T
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