Varaico: Literature-Extracted Genetic Variants

TSEN34

51 papers

RefSeq Summary

This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prim...

Pfam Domains

TSEN34_Naa 2–71UCSCTSEN34-like, N-terminal domain

tRNA_int_endoaa 217–301UCSCtRNA intron endonuclease, catalytic C-terminal domain

Gene Aliases

HGNC Name

tRNA splicing endonuclease subunit 34

HGNC Previous Symbol

LENG5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 30 variants

13 papers

NM_001077446.4

p.R58W

c.172C>T

3 papers

NM_001077446.4

p.P293L

c.878C>T

2 papers

NM_001077446.4

p.A307S

c.919G>T

1 paper

NM_001077446.4

p.R38delFs

c.112delC

1 paper

NM_001077446.4

p.A61_E62delFs

c.183_184delCG

1 paper

NM_001077446.4

p.A65S

c.193G>T

1 paper

NM_001077446.4

p.S70G

c.208A>G

1 paper

NM_001077446.4

p.R105Q

c.314G>A

1 paper

NM_001077446.4

p.A122T

c.364G>A

1 paper

NM_001077446.4

p.S131L

c.392C>T

1 paper

NM_001077446.4

p.S134N

c.401G>A

1 paper

NM_001077446.4

p.Q159H

c.477G>C