Varaico: Literature-Extracted Genetic Variants

Gene:DDX39B

DDX39B

92 papers

RefSeq Summary

This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for associ...

Pfam Domains

DEADaa 69–238UCSCDEAD/DEAH box helicase
Helicase_Caa 273–382UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DExD-box helicase 39B

HGNC Previous Symbol

BAT1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
3 papers
NM_004640.7
p.D199A
c.596A>C
2 papers
NM_004640.7
p.G37C
c.109G>T
2 papers
NM_004640.7
p.S44R
c.130A>C
2 papers
NM_004640.7
p.S44R
c.132C>G
2 papers
NM_004640.7
p.S44R
c.132C>A
2 papers
NM_004640.7
p.G92D
c.275G>A
2 papers
NM_004640.7
p.R123Q
c.368G>A
2 papers
NM_004640.7
p.E197A
c.590A>C
2 papers
NM_004640.7
p.R208S
c.622C>A
2 papers
NM_004640.7
p.R216S
c.646C>A
1 paper
NM_004640.7
p.M1K
c.2T>A
1 paper
NM_004640.7
p.N4D
c.10A>G
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