Varaico: Literature-Extracted Genetic Variants

Gene:DDX39A

DDX39A

36 papers

RefSeq Summary

This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a numbe...

Pfam Domains

DEADaa 68–237UCSCDEAD/DEAH box helicase
Helicase_Caa 272–381UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DExD-box helicase 39A

HGNC Previous Symbol

DDX39

Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
1 paper
NM_005804.4
p.N8S
c.23A>G
1 paper
NM_005804.4
p.E18K
c.52G>A
1 paper
NM_005804.4
p.K32K
c.96A>G
1 paper
NM_005804.4
p.D33D
c.99C>T
1 paper
NM_005804.4
p.I34I
c.102C>A
1 paper
NM_005804.4
p.K35K
c.105G>A
1 paper
NM_005804.4
p.G36G
c.108A>C
1 paper
NM_005804.4
p.S37S
c.111C>G
1 paper
NM_005804.4
p.Y38Y
c.114C>T
1 paper
NM_005804.4
p.V39V
c.117T>C
1 paper
NM_005804.4
p.K52_P53insFs
c.156_157insA
1 paper
NM_005804.4
p.I59M
c.177C>G
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