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

1 paper

NM_004396.5

p.G303S

c.907G>A

Surrounding Variants

1 paper

NM_004396.5

p.E306V

c.917A>T

1 paper

NM_004396.5

p.F293I

c.877T>A

1 paper

NM_004396.5

p.Q315R

c.944A>G

2 papers

NM_004396.5

p.Q288Q

c.864G>A

1 paper

NM_004396.5

p.C320Y

c.959G>A

1 paper

NM_004396.5

p.P283L

c.848C>T

1 paper

NM_004396.5

p.V323I

c.967G>A

1 paper

NM_004396.5

p.W278C

c.834G>T

1 paper

NM_004396.5

p.W278C

c.834G>C

1 paper

NM_004396.5

p.Q274Q

c.822A>G

1 paper

NM_004396.5

p.D272N

c.814G>A

1 paper

NM_004396.5

p.R270_P271Splc

c.810+1G>T