Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.V510A

DDX53

119 papers

RefSeq Summary

This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA un...

Pfam Domains

KH_1aa 51–111UCSCKH domain
DEADaa 246–417UCSCDEAD/DEAH box helicase
Helicase_Caa 451–562UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 53

HGNC Alias Symbol

CT26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182699.4
p.V510A
c.1529T>C
Surrounding Variants
1 paper
NM_182699.4
p.F513V
c.1537T>G
1 paper
NM_182699.4
p.E502E
c.1506A>G
1 paper
NM_182699.4
p.S528F
c.1583C>T
1 paper
NM_182699.4
p.Q490*
c.1468C>T
1 paper
NM_182699.4
p.L531V
c.1591C>G
1 paper
NM_182699.4
p.N534S
c.1601A>G
1 paper
NM_182699.4
p.D486N
c.1456G>A
1 paper
NM_182699.4
p.D535V
c.1604A>T
1 paper
NM_182699.4
p.D482N
c.1444G>A
1 paper
NM_182699.4
p.Y540H
c.1618T>C
1 paper
NM_182699.4
p.S475N
c.1424G>A
1 paper
NM_182699.4
p.V474A
c.1421T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."