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

1–12 of 128 variants

8 papers

NM_004396.5

p.S480A

c.1438T>G

5 papers

NM_004396.5

p.K144N

c.432A>T

5 papers

NM_004396.5

p.K144N

c.432A>C

5 papers

NM_004396.5

p.D248N

c.742G>A

3 papers

NM_004396.5

p.C191G

c.571T>G

3 papers

NM_004396.5

p.Y593F

c.1778A>T

2 papers

NM_004396.5

p.R14P

c.41G>C

2 papers

NM_004396.5

p.K53R

c.158A>G

2 papers

NM_004396.5

p.E72K

c.214G>A

2 papers

NM_004396.5

p.V105I

c.313G>A

2 papers

NM_004396.5

p.K144R

c.431A>G

2 papers

NM_004396.5

p.S147delFs

c.440_441delAG