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.K523N

c.1569A>T

Surrounding Variants

1 paper

NM_004396.5

p.S520N

c.1559G>A

1 paper

NM_004396.5

p.G527E

c.1580G>A

1 paper

NM_004396.5

p.A537T

c.1609G>A

1 paper

NM_004396.5

p.F545I

c.1633T>A

1 paper

NM_004396.5

p.V550V

c.1650G>A

2 papers

NM_004396.5

p.S551F

c.1652C>T

1 paper

NM_004396.5

p.G553G

c.1659T>C

1 paper

NM_004396.5

p.G487E

c.1460G>A

1 paper

NM_004396.5

p.S483F

c.1448C>T

1 paper

NM_004396.5

p.Q575*

c.1723C>T

1 paper

NM_004396.5

p.P582A

c.1744C>G

1 paper

NM_004396.5

p.Q590R

c.1769A>G