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

Selected Variant

2 papers

NM_001300860.2

p.R86R

c.258A>C

Surrounding Variants

1 paper

NM_001300860.2

p.R86R

c.258A>G

1 paper

NM_001300860.2

p.S87R

c.259A>C

1 paper

NM_001300860.2

p.R86R

c.256C>A

1 paper

NM_001300860.2

p.R92C

c.274C>T

1 paper

NM_001300860.2

p.R96K

c.287G>A

1 paper

NM_001300860.2

p.R103fs

c.307_308fs

1 paper

NM_001300860.2

p.R103delFs

c.308delG

1 paper

NM_001300860.2

p.S105F

c.314C>T

1 paper

NM_001300860.2

p.R53C

c.157C>T

1 paper

NM_001300860.2

p.E50D

c.150G>C

1 paper

NM_001300860.2

p.E50D

c.150G>T

1 paper

NM_001300860.2

p.D44H

c.130G>C