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

Selected Variant

2 papers

NM_019030.4

p.R668*

c.2002C>T

Surrounding Variants

2 papers

NM_019030.4

p.E689K

c.2065G>A

1 paper

NM_019030.4

p.K622E

c.1864A>G

1 paper

NM_019030.4

p.L610F

c.1830G>T

1 paper

NM_019030.4

p.L610F

c.1830G>C

1 paper

NM_019030.4

p.G595G

c.1785T>G

1 paper

NM_019030.4

p.R589L

c.1766G>T

1 paper

NM_019030.4

p.V543M

c.1627G>A

1 paper

NM_019030.4

p.E521K

c.1561G>A

1 paper

NM_019030.4

p.R514T

c.1541G>C

1 paper

NM_019030.4

p.K498N

c.1494A>T

1 paper

NM_019030.4

p.K498N

c.1494A>C

1 paper

NM_019030.4

p.L490I

c.1468C>A