Varaico: Literature-Extracted Genetic Variants

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

7 papers

NM_015271.5

p.D667A

c.2000A>C

Surrounding Variants

1 paper

NM_015271.5

p.T637A

c.1909A>G

1 paper

NM_001130067.2

p.N594delFs

c.1781delA

1 paper

NM_015271.5

p.N621del1

c.1861_1862delAAC

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

2 papers

NM_015271.5

p.W715*

c.2144G>A

1 paper

NM_015271.5

p.W715*

c.2145G>A

2 papers

NM_015271.5

p.K594delFs

c.1781delA

NM_001130067.2

p.K567delFs

c.1699delA

1 paper

NM_015271.5

p.D578N

c.1732G>A

1 paper

NM_015271.5

p.R553W

c.1657C>T

1 paper

NM_015271.5

p.R549H

c.1646G>A