Varaico: Literature-Extracted Genetic Variants

DDX31

13 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 150–327UCSCDEAD/DEAH box helicase

DEADaa 255–432UCSCDEAD/DEAH box helicase

Helicase_Caa 388–480UCSCHelicase conserved C-terminal domain

Helicase_Caa 493–623UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 31

HGNC Alias Symbols

FLJ13633; FLJ23349; FLJ14578; PPP1R25

Papers

RefSeq ID

Protein change

DNA change

1–12 of 13 variants

1 paper

NM_022779.9

p.D10H

c.28G>C

1 paper

NM_022779.9

p.A125V

c.374C>T

1 paper

NM_022779.9

p.D365N

c.1093G>A

1 paper

NM_022779.9

p.I372L

c.1114A>T

1 paper

NM_022779.9

p.A575V

c.1724C>T

1 paper

NM_022779.9

p.A585V

c.1754C>T

1 paper

NM_022779.9

p.V603delFs

c.1807delC

1 paper

NM_022779.9

p.R622G

c.1864A>G

1 paper

NM_022779.9

p.K664N

c.1992A>T

1 paper

NM_022779.9

p.P666L

c.1997C>T

1 paper

NM_022779.9

p.R683S

c.2047C>A

1 paper

NM_022779.9

p.G689D

c.2066G>A