Varaico: Literature-Extracted Genetic Variants

Gene:DDX39B
Variant:p.M226L

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.M226L
c.676A>T
Surrounding Variants
1 paper
NM_004640.7
p.M225I
c.675G>T
1 paper
NM_004640.7
p.M225I
c.675G>C
1 paper
NM_004640.7
p.M225I
c.675G>A
2 papers
NM_004640.7
p.R216S
c.646C>A
1 paper
NM_004640.7
p.R240H
c.719G>A
1 paper
NM_004640.7
p.D210N
c.628G>A
2 papers
NM_004640.7
p.R208S
c.622C>A
1 paper
NM_004640.7
p.D199V
c.596A>T
3 papers
NM_004640.7
p.D199A
c.596A>C
2 papers
NM_004640.7
p.E197A
c.590A>C
1 paper
NM_004640.7
p.S184N
c.551G>A
1 paper
NM_004640.7
p.R175H
c.524G>A
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