Varaico: Literature-Extracted Genetic Variants

Gene:DHX57

DHX57

96 papers

Pfam Domains

UBA_DHX57_Naa 69–111UCSCDHX57, N-terminal UBA domain
RWDaa 246–419UCSCRWD domain
zf-CCCH_4aa 303–324UCSCCCCH-type zinc finger
DEADaa 548–709UCSCDEAD/DEAH box helicase
Helicase_Caa 829–969UCSCHelicase conserved C-terminal domain
WHD_HA2aa 1038–1064UCSCHelicase associated domain (HA2), winged-helix

Gene Aliases

HGNC Name

DExH-box helicase 57

HGNC Alias Symbol

DDX57

Papers
RefSeq ID
Protein change
DNA change
1–12 of 107 variants
6 papers
NM_198963.3
p.N587S
c.1760A>G
4 papers
NM_198963.3
p.S410F
c.1229C>T
3 papers
NM_198963.3
p.S433G
c.1297A>G
3 papers
NM_198963.3
p.R612H
c.1835G>A
2 papers
NM_198963.3
p.G40G
c.120C>T
2 papers
NM_198963.3
p.K256E
c.766A>G
2 papers
NM_198963.3
p.R386H
c.1157G>A
2 papers
NM_198963.3
p.V925D
c.2774T>A
2 papers
NM_198963.3
p.R964*
c.2890C>T
2 papers
NM_198963.3
p.R1023W
c.3067C>T
2 papers
NM_198963.3
p.R1041*
c.3121C>T
1 paper
NM_198963.3
p.P11R
c.32C>G
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