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.K194_Q195insFs

c.582_583insA

Surrounding Variants

1 paper

NM_020936.3

p.T187I

c.560C>T

1 paper

NM_020936.3

p.P239S

c.715C>T

1 paper

NM_020936.3

p.R241L

c.722G>T

1 paper

NM_020936.3

p.S160G

c.478A>G

1 paper

NM_020936.3

p.R144C

c.430C>T

1 paper

NM_020936.3

p.I137I

c.411C>T

1 paper

NM_020936.3

p.G134C

c.400G>T

1 paper

NM_020936.3

p.S113S

c.339C>T

1 paper

NM_020936.3

p.T106T

c.318G>A

1 paper

NM_020936.3

p.T91I

c.272C>T

2 papers

NM_020936.3

p.N264S

c.791A>G

1 paper

NM_020936.3

p.T60A

c.178A>G