Varaico: Literature-Extracted Genetic Variants

Gene:DDX39A
Variant:p.F98L

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
Selected Variant
1 paper
NM_005804.4
p.F98L
c.292T>C
Surrounding Variants
1 paper
NM_005804.4
p.V97delFs
c.290_291delGA
1 paper
NM_005804.4
p.F98L
c.294C>G
1 paper
NM_005804.4
p.F98L
c.294C>A
1 paper
NM_005804.4
p.A96G
c.287C>G
1 paper
NM_005804.4
p.K94N
c.282G>T
1 paper
NM_005804.4
p.K94N
c.282G>C
1 paper
NM_005804.4
p.G93D
c.278G>A
1 paper
NM_005804.4
p.I106L
c.316A>C
1 paper
NM_005804.4
p.N110T
c.329A>C
1 paper
NM_005804.4
p.I59M
c.177C>G
1 paper
NM_005804.4
p.K52_P53insFs
c.156_157insA
1 paper
NM_005804.4
p.V39V
c.117T>C
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