Varaico: Literature-Extracted Genetic Variants

Gene:DHX57
Variant:p.R603R

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
Selected Variant
1 paper
NM_198963.3
p.R603R
c.1807C>A
Surrounding Variants
3 papers
NM_198963.3
p.R612H
c.1835G>A
1 paper
NM_198963.3
p.V613I
c.1837G>A
1 paper
NM_198963.3
p.E616G
c.1847A>G
1 paper
NM_198963.3
p.G588A
c.1763G>C
6 papers
NM_198963.3
p.N587S
c.1760A>G
1 paper
NM_198963.3
p.V625M
c.1873G>A
1 paper
NM_198963.3
p.T646M
c.1937C>T
1 paper
NM_198963.3
p.V648M
c.1942G>A
1 paper
NM_198963.3
p.S677Splc
c.2030+1G>A
1 paper
NM_198963.3
p.G570Splc
c.1709+1G>C
1 paper
NM_198963.3
p.T569I
c.1706C>T
1 paper
NM_198963.3
p.R558H
c.1673G>A
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