Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.D468G

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.D468G
c.1403A>G
Surrounding Variants
1 paper
NM_182699.4
p.I471I
c.1413C>T
1 paper
NM_182699.4
p.V474A
c.1421T>C
1 paper
NM_182699.4
p.S475N
c.1424G>A
1 paper
NM_182699.4
p.D482N
c.1444G>A
1 paper
NM_182699.4
p.D486N
c.1456G>A
2 papers
NM_182699.4
p.T448P
c.1342A>C
1 paper
NM_182699.4
p.Q490*
c.1468C>T
1 paper
NM_182699.4
p.I446fs
c.1336_1337fs
1 paper
NM_182699.4
p.I445T
c.1334T>C
1 paper
NM_182699.4
p.I445insFs
c.1334dupT
1 paper
NM_182699.4
p.T440A
c.1318A>G
1 paper
NM_182699.4
p.V438G
c.1313T>G
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