Varaico: Literature-Extracted Genetic Variants

Gene:DDX39B
Variant:p.L104P

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
1 paper
NM_004640.7
p.L104P
c.311T>C
Surrounding Variants
1 paper
NM_004640.7
p.A102P
c.304G>C
1 paper
NM_004640.7
p.P109A
c.325C>G
1 paper
NM_004640.7
p.V98V
c.294G>A
1 paper
NM_004640.7
p.K95N
c.285G>T
1 paper
NM_004640.7
p.K95N
c.285G>C
2 papers
NM_004640.7
p.G92D
c.275G>A
1 paper
NM_004640.7
p.S91T
c.271T>A
1 paper
NM_004640.7
p.G82A
c.245G>C
1 paper
NM_004640.7
p.E74K
c.220G>A
1 paper
NM_004640.7
p.V71Splc
c.212-5T>C
1 paper
NM_004640.7
p.Q113_V114Splc
c.340-5C>T
1 paper
NM_004640.7
p.V114E
c.341T>A
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