Varaico: Literature-Extracted Genetic Variants

Gene:TRIM63
Variant:p.H203Q

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
1 paper
NM_032588.4
p.H203Q
c.609C>A
Surrounding Variants
1 paper
NM_032588.4
p.S202C
c.604A>T
1 paper
NM_032588.4
p.E200K
c.598G>A
1 paper
NM_032588.4
p.L209P
c.626T>C
1 paper
NM_032588.4
p.K199_E200Splc
c.598-8G>A
1 paper
NM_032588.4
p.K212N
c.636G>T
1 paper
NM_032588.4
p.K212N
c.636G>C
1 paper
NM_032588.4
p.T215P
c.643A>C
1 paper
NM_032588.4
p.T215M
c.644C>T
1 paper
NM_032588.4
p.R230W
c.688C>T
5 papers
NM_032588.4
p.T232M
c.695C>T
1 paper
NM_032588.4
p.Q233K
c.697C>A
5 papers
NM_032588.4
p.K237E
c.709A>G
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