Varaico: Literature-Extracted Genetic Variants

Gene:DHX57
Variant:p.R116*

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.R116*
c.346C>T
Surrounding Variants
1 paper
NM_198963.3
p.R116P
c.347G>C
1 paper
NM_198963.3
p.L114I
c.340C>A
1 paper
NM_198963.3
p.K91T
c.272A>C
1 paper
NM_198963.3
p.G133Fs
c.397delinsTTFs
1 paper
NM_198963.3
p.E135K
c.403G>A
1 paper
NM_198963.3
p.R147Q
c.440G>A
1 paper
NM_198963.3
p.Y175H
c.523T>C
1 paper
NM_198963.3
p.C199F
c.596G>T
1 paper
NM_198963.3
p.E215K
c.643G>A
1 paper
NM_198963.3
p.E246K
c.736G>A
1 paper
NM_198963.3
p.E251K
c.751G>A
2 papers
NM_198963.3
p.K256E
c.766A>G
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