Varaico: Literature-Extracted Genetic Variants

Gene:TRIM2
Variant:p.R768L

TRIM2

75 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 23–61UCSCRING-type zinc-finger
zf-B_boxaa 113–154UCSCB-box zinc finger
Filaminaa 322–418UCSCFilamin/ABP280 repeat
NHLaa 486–513UCSCNHL repeat
NHLaa 533–560UCSCNHL repeat
NHLaa 575–602UCSCNHL repeat

Gene Aliases

HGNC Name

tripartite motif containing 2

HGNC Alias Symbols

KIAA0517; RNF86; CMT2R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015271.5
p.R768L
c.2303G>T
Surrounding Variants
1 paper
NM_015271.5
p.R768*
c.2302C>T
1 paper
NM_015271.5
p.D738delFs
c.2212delG
1 paper
NM_015271.5
p.W715*
c.2145G>A
2 papers
NM_015271.5
p.W715*
c.2144G>A
1 paper
NM_015271.5
p.M683I
c.2049G>A
1 paper
NM_015271.5
p.M683I
c.2049G>C
1 paper
NM_015271.5
p.M683I
c.2049G>T
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