Varaico: Literature-Extracted Genetic Variants

DDX46

90 papers

RefSeq Summary

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number o...

Pfam Domains

DEADaa 396–570UCSCDEAD/DEAH box helicase

Helicase_Caa 604–714UCSCHelicase conserved C-terminal domain

KH_12aa 932–1015UCSCKH-domain

Gene Aliases

HGNC Name

DEAD-box helicase 46

HGNC Alias Symbols

KIAA0801; FLJ25329; PRPF5; Prp5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 79 variants

2 papers

NM_001300860.2

p.K10N

c.30A>C

2 papers

NM_001300860.2

p.R86R

c.258A>C

1 paper

NM_001300860.2

p.G2D

c.5G>A

1 paper

NM_001300860.2

p.R6Splc

c.17+1G>C

1 paper

NM_001300860.2

p.R9Q

c.26G>A

1 paper

NM_001300860.2

p.R9R

c.27A>C

1 paper

NM_001300860.2

p.S14Y

c.41C>A

1 paper

NM_001300860.2

p.S14C

c.41C>G

1 paper

NM_001300860.2

p.R15G

c.43C>G

1 paper

NM_001300860.2

p.S18insFs

c.53dupC

1 paper

NM_001300860.2

p.G19R

c.55G>C

1 paper

NM_001300860.2

p.S24delFs

c.71delG