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.A138V

c.413C>T

Surrounding Variants

1 paper

NM_004396.5

p.V137M

c.409G>A

1 paper

NM_004396.5

p.T140N

c.419C>A

2 papers

NM_004396.5

p.K144R

c.431A>G

5 papers

NM_004396.5

p.K144N

c.432A>T

5 papers

NM_004396.5

p.K144N

c.432A>C

1 paper

NM_004396.5

p.G131A

c.392G>C

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.S147A

c.439T>G

1 paper

NM_004396.5

p.S147fs

c.439_440fs

2 papers

NM_004396.5

p.S147delFs

c.440_441delAG

1 paper

NM_004396.5

p.S147_Y148Splc

c.441+2T>C