Varaico: Literature-Extracted Genetic Variants

Gene:TRIM2
Variant:p.P21L

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.P21L
c.62C>T
Surrounding Variants
1 paper
NM_015271.5
p.G20G
c.60C>A
1 paper
NM_015271.5
p.A19A
c.57C>A
1 paper
NM_015271.5
p.C23S
c.67T>A
1 paper
NM_015271.5
p.A19V
c.56C>T
1 paper
NM_015271.5
p.C23S
c.68G>C
1 paper
NM_015271.5
p.T18I
c.53C>T
1 paper
NM_015271.5
p.G32G
c.96C>A
1 paper
NM_015271.5
p.Q42L
c.125A>T
1 paper
NM_015271.5
p.D44N
c.130G>A
1 paper
NM_015271.5
p.C53S
c.157T>A
1 paper
NM_015271.5
p.C53S
c.158G>C
1 paper
NM_015271.5
p.V89A
c.266T>C
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