Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.R415R

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.R415R
c.1245T>C
Surrounding Variants
3 papers
NM_182699.4
p.T409A
c.1225A>G
1 paper
NM_182699.4
p.Y429D
c.1285T>G
1 paper
NM_182699.4
p.V397M
c.1189G>A
2 papers
NM_182699.4
p.L435I
c.1303C>A
1 paper
NM_182699.4
p.V438G
c.1313T>G
1 paper
NM_182699.4
p.K392N
c.1176G>C
1 paper
NM_182699.4
p.K392N
c.1176G>T
1 paper
NM_182699.4
p.T440A
c.1318A>G
1 paper
NM_182699.4
p.R391M
c.1172G>T
1 paper
NM_182699.4
p.I445insFs
c.1334dupT
1 paper
NM_182699.4
p.F386S
c.1157T>C
1 paper
NM_182699.4
p.I445T
c.1334T>C
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