Varaico: Literature-Extracted Genetic Variants

Gene:DDX27
Variant:p.P402L

DDX27

37 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 211–381UCSCDEAD/DEAH box helicase
Helicase_Caa 418–527UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 27

HGNC Alias Symbols

dJ686N3.1; DRS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017895.8
p.P402L
c.1205C>T
Surrounding Variants
1 paper
NM_017895.8
p.A307T
c.919G>A
1 paper
NM_017895.8
p.V274A
c.821T>C
2 papers
NM_017895.8
p.V582_Q584del3
c.1744_1751del9
1 paper
NM_017895.8
p.V220A
c.659T>C
4 papers
NM_017895.8
p.G206V
c.617G>T
1 paper
NM_017895.8
p.K200del1
c.598_599delAAG
2 papers
NM_017895.8
p.L194_S195del1
c.582_584delTTC
2 papers
NM_017895.8
p.L194_S195del2
c.580_584del6
1 paper
NM_017895.8
p.R688delFs
c.2064delC
1 paper
NM_017895.8
p.R689insFs
c.2065dupA
2 papers
NM_017895.8
p.R689delFs
c.2065delA
3 papers
NM_017895.8
p.K691delFs
c.2072delA
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