Varaico: Literature-Extracted Genetic Variants

DDX5

175 papers

RefSeq Summary

This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a la...

Pfam Domains

DEADaa 118–289UCSCDEAD/DEAH box helicase

Helicase_Caa 324–436UCSCHelicase conserved C-terminal domain

P68HRaa 498–532UCSCP68HR (NUC004) repeat

P68HRaa 551–583UCSCP68HR (NUC004) repeat

Gene Aliases

HGNC Name

DEAD-box helicase 5

HGNC Previous Symbols

HLR1; G17P1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004396.5

p.E72K

c.214G>A

Surrounding Variants

1 paper

NM_004396.5

p.Y76Y

c.228C>T

1 paper

NM_004396.5

p.I82V

c.244A>G

1 paper

NM_004396.5

p.G86G

c.258T>C

1 paper

NM_004396.5

p.H87_N88insC

c.259_263ins3

1 paper

NM_004396.5

p.A103insFs

c.308_309insA

2 papers

NM_004396.5

p.V105I

c.313G>A

1 paper

NM_004396.5

p.V108I

c.322G>A

1 paper

NM_004396.5

p.E116E

c.348A>G

1 paper

NM_004396.5

p.G131R

c.391G>C

1 paper

NM_004396.5

p.G131R

c.391G>A

1 paper

NM_004396.5

p.G131A

c.392G>C

1 paper

NM_004396.5

p.V137M

c.409G>A