Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.A129T

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.A129T
c.385G>A
Surrounding Variants
1 paper
NM_182699.4
p.A129S
c.385G>T
1 paper
NM_182699.4
p.T132delFs
c.395delC
1 paper
NM_182699.4
p.D126N
c.376G>A
1 paper
NM_182699.4
p.P133fs
c.397_398fs
1 paper
NM_182699.4
p.R136*
c.406A>T
2 papers
NM_182699.4
p.R136I
c.407G>T
1 paper
NM_182699.4
p.S118N
c.353G>A
1 paper
NM_182699.4
p.N141T
c.422A>C
1 paper
NM_182699.4
p.V144I
c.430G>A
1 paper
NM_182699.4
p.E146K
c.436G>A
2 papers
NM_182699.4
p.A107S
c.319G>T
1 paper
NM_182699.4
p.K106Q
c.316A>C
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