Varaico: Literature-Extracted Genetic Variants

Gene:EIF4A3
Variant:p.D270G

EIF4A3

62 papers

RefSeq Summary

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

Pfam Domains

DEADaa 102–207UCSCDEAD/DEAH box helicase
Helicase_Caa 242–351UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 4A3

HGNC Previous Symbol

DDX48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_014740.4
p.D270G
c.809A>G
Surrounding Variants
1 paper
NM_014740.4
p.T267T
c.801T>A
1 paper
NM_014740.4
p.F255_T267delFs
c.765_799del35
1 paper
NM_014740.4
p.A280V
c.839C>T
1 paper
NM_014740.4
p.A257V
c.770C>T
2 papers
NM_014740.4
p.V256M
c.766G>A
1 paper
NM_014740.4
p.L248P
c.743T>C
1 paper
NM_014740.4
p.L248M
c.742C>A
1 paper
NM_014740.4
p.L246S
c.737T>C
1 paper
NM_014740.4
p.G309R
c.925G>A
1 paper
NM_014740.4
p.G309A
c.926G>C
1 paper
NM_014740.4
p.P312L
c.935C>T
1 paper
NM_014740.4
p.R316W
c.946C>T
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