Varaico: Literature-Extracted Genetic Variants

Gene:TRIM32
Variant:p.C23S

TRIM32

495 papers

RefSeq Summary

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil reg...

Pfam Domains

zf-RING_UBOXaa 20–62UCSCRING-type zinc-finger
NHLaa 371–398UCSCNHL repeat
NHLaa 469–496UCSCNHL repeat
NHLaa 616–643UCSCNHL repeat

Gene Aliases

HGNC Name

tripartite motif containing 32

HGNC Previous Symbol

LGMD2H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
15 papers
NM_012210.4
p.C23S
c.67T>A
Surrounding Variants
1 paper
NM_012210.4
p.I22I
c.66C>A
15 papers
NM_012210.4
p.C23S
c.68G>C
1 paper
NM_012210.4
p.C23*
c.69C>A
1 paper
NM_012210.4
p.I22V
c.64A>G
1 paper
NM_012210.4
p.M24R
c.71T>G
1 paper
NM_012210.4
p.E25E
c.75G>A
2 papers
NM_012210.4
p.C20F
c.59G>T
1 paper
NM_012210.4
p.C20_P21ins1
c.60_61insAGC
2 papers
NM_012210.4
p.E19_C23del5
c.55_68del15
1 paper
NM_012210.4
p.E16E
c.48A>G
1 paper
NM_012210.4
p.R33C
c.97C>T
1 paper
NM_012210.4
p.P34T
c.100C>A
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