Varaico: Literature-Extracted Genetic Variants

Gene:DDX28
Variant:p.E317K

DDX28

38 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary ...

Pfam Domains

DEADaa 152–340UCSCDEAD/DEAH box helicase
Helicase_Caa 376–492UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 28

HGNC Alias Symbols

MDDX28; FLJ11282

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018380.4
p.E317K
c.949G>A
Surrounding Variants
1 paper
NM_018380.4
p.P334S
c.1000C>T
1 paper
NM_018380.4
p.D293N
c.877G>A
1 paper
NM_018380.4
p.A288T
c.862G>A
1 paper
NM_018380.4
p.T351A
c.1051A>G
1 paper
NM_018380.4
p.S355I
c.1064G>T
4 papers
NM_018380.4
p.L277P
c.830T>C
1 paper
NM_018380.4
p.H359Q
c.1077C>G
1 paper
NM_018380.4
p.H359Q
c.1077C>A
1 paper
NM_018380.4
p.S272G
c.814A>G
1 paper
NM_018380.4
p.H364R
c.1091A>G
1 paper
NM_018380.4
p.D236H
c.706G>C
1 paper
NM_018380.4
p.C404G
c.1210T>G
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