Varaico: Literature-Extracted Genetic Variants

DDX55

42 papers

RefSeq Summary

This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes in...

Pfam Domains

DEADaa 33–212UCSCDEAD/DEAH box helicase

Helicase_Caa 253–363UCSCHelicase conserved C-terminal domain

CTE_SPB4aa 414–463UCSCATP-dependent rRNA helicase SPB4-like, C-terminal extension

Gene Aliases

HGNC Name

DEAD-box helicase 55

HGNC Alias Symbol

KIAA1595

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020936.3

p.K388_C389Splc

c.1165-2A>G

Surrounding Variants

1 paper

NM_020936.3

p.L391M

c.1171C>A

1 paper

NM_020936.3

p.P396A

c.1186C>G

1 paper

NM_020936.3

p.I440T

c.1319T>C

1 paper

NM_020936.3

p.S378*

c.1133C>A

1 paper

NM_020936.3

p.S378*

c.1133C>G

1 paper

NM_020936.3

p.E377A

c.1130A>C

1 paper

NM_020936.3

p.F371F

c.1113C>T

1 paper

NM_020936.3

p.V479V

c.1437T>C

2 papers

NM_020936.3

p.T481I

c.1442C>T

1 paper

NM_020936.3

p.R355H

c.1064G>A

1 paper

NM_020936.3

p.Q524K

c.1570C>A

1 paper

NM_020936.3

p.A526D

c.1577C>A