Varaico: Literature-Extracted Genetic Variants

DHX29

72 papers

RefSeq Summary

This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation,...

Pfam Domains

UBA_DHX29aa 123–177UCSCATP-dependent RNA helicase DHX29, UBA domain

DSRM_DHX29aa 413–515UCSCATP-dependent RNA helicase DHX29, DSRM-like

DEADaa 576–744UCSCDEAD/DEAH box helicase

Helicase_Caa 847–986UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DExH-box helicase 29

HGNC Previous Symbol

DDX29

Papers

RefSeq ID

Protein change

DNA change

1–12 of 86 variants

3 papers

NM_019030.4

p.M317I

c.951G>T

3 papers

NM_019030.4

p.M317I

c.951G>C

3 papers

NM_019030.4

p.M317I

c.951G>A

3 papers

NM_019030.4

p.R1149*

c.3445C>T

2 papers

NM_019030.4

p.E104K

c.310G>A

2 papers

NM_019030.4

p.R668*

c.2002C>T

2 papers

NM_019030.4

p.E689K

c.2065G>A

2 papers

NM_019030.4

p.K1276_I1277Splc

c.3829-1G>C

2 papers

NM_019030.4

p.T1361M

c.4082C>T

1 paper

NM_019030.4

p.M1insFs

c.3dupG

1 paper

NM_019030.4

p.G3A

c.8G>C

1 paper

NM_019030.4

p.A10P

c.28G>C