Varaico: Literature-Extracted Genetic Variants

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

1–12 of 261 variants

74 papers

NM_012210.4

p.D487N

c.1459G>A

32 papers

NM_012210.4

p.P130S

c.388C>T

26 papers

NM_012210.4

p.R394H

c.1181G>A

15 papers

NM_012210.4

p.C23S

c.67T>A

15 papers

NM_012210.4

p.C23S

c.68G>C

15 papers

NM_012210.4

p.P34P

c.102C>T

15 papers

NM_012210.4

p.D588del1

c.1762_1763delGAT

13 papers

NM_012210.4

p.R613*

c.1837C>T

10 papers

NM_012210.4

p.V591M

c.1771G>A

9 papers

NM_012210.4

p.T520delFs

c.1559delC

8 papers

NM_012210.4

p.L163P

c.488T>C

8 papers

NM_012210.4

p.R596G

c.1786C>G