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.V453A

c.1358T>C

Surrounding Variants

2 papers

NM_004396.5

p.I457I

c.1371C>T

2 papers

NM_004396.5

p.R461R

c.1383T>G

1 paper

NM_004396.5

p.E462V

c.1385A>T

1 paper

NM_004396.5

p.T440_A441del2

c.1318_1322del6

1 paper

NM_004396.5

p.I467V

c.1399A>G

1 paper

NM_004396.5

p.K437R

c.1310A>G

1 paper

NM_004396.5

p.K470R

c.1409A>G

1 paper

NM_004396.5

p.Q473R

c.1418A>G

1 paper

NM_004396.5

p.E476K

c.1426G>A

1 paper

NM_004396.5

p.R478T

c.1433G>C

1 paper

NM_004396.5

p.G479C

c.1435G>T

8 papers

NM_004396.5

p.S480A

c.1438T>G