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.K53R

c.158A>G

Surrounding Variants

1 paper

NM_004396.5

p.P52P

c.156T>A

1 paper

NM_004396.5

p.E55Q

c.163G>C

1 paper

NM_004396.5

p.E55A

c.164A>C

1 paper

NM_004396.5

p.K56R

c.167A>G

1 paper

NM_004396.5

p.P63S

c.187C>T

1 paper

NM_004396.5

p.P63T

c.187C>A

1 paper

NM_004396.5

p.A66A

c.198T>C

1 paper

NM_004396.5

p.G35delins

c.103_105delinsTTT

1 paper

NM_004396.5

p.L29_S30insFs

c.87_88insC

1 paper

NM_004396.5

p.A26P

c.76G>C

1 paper

NM_004396.5

p.G22A

c.65G>C

1 paper

NM_004396.5

p.R20P

c.59G>C