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

5 papers

NM_004396.5

p.D248N

c.742G>A

Surrounding Variants

1 paper

NM_004396.5

p.E249Q

c.745G>C

1 paper

NM_004396.5

p.D255H

c.763G>C

1 paper

NM_004396.5

p.D255N

c.763G>A

1 paper

NM_004396.5

p.R240T

c.719G>C

1 paper

NM_004396.5

p.T237S

c.710C>G

1 paper

NM_004396.5

p.E259K

c.775G>A

1 paper

NM_004396.5

p.T237S

c.709A>T

1 paper

NM_004396.5

p.R263S

c.789G>T

1 paper

NM_004396.5

p.R263S

c.789G>C

1 paper

NM_004396.5

p.L228L

c.684G>A

1 paper

NM_004396.5

p.R270_P271Splc

c.810+1G>T

1 paper

NM_004396.5

p.D272N

c.814G>A