Varaico: Literature-Extracted Genetic Variants

Gene:DDX39B
Variant:p.S44R

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
Selected Variant
2 papers
NM_004640.7
p.S44R
c.132C>G
Surrounding Variants
2 papers
NM_004640.7
p.S44R
c.132C>A
2 papers
NM_004640.7
p.S44R
c.130A>C
1 paper
NM_004640.7
p.F47fs
c.139_140fs
1 paper
NM_004640.7
p.S41S
c.123C>T
1 paper
NM_004640.7
p.F47_R48delFs
c.141_144del4
1 paper
NM_004640.7
p.D49A
c.146A>C
1 paper
NM_004640.7
p.D49_L51del0
c.147_152del6
1 paper
NM_004640.7
p.L52ins2
c.154_155ins6
2 papers
NM_004640.7
p.G37C
c.109G>T
1 paper
NM_004640.7
p.K53fs
c.157_158fs
1 paper
NM_004640.7
p.K53insFs
c.157_158ins4
1 paper
NM_004640.7
p.K32R
c.95A>G
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