Varaico: Literature-Extracted Genetic Variants

Gene:DHX57
Variant:p.I412delFs

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.I412delFs
c.1234delT
Surrounding Variants
4 papers
NM_198963.3
p.S410F
c.1229C>T
1 paper
NM_198963.3
p.S419S
c.1257G>A
1 paper
NM_198963.3
p.L425L
c.1273C>T
3 papers
NM_198963.3
p.S433G
c.1297A>G
1 paper
NM_198963.3
p.V437L
c.1309G>T
1 paper
NM_198963.3
p.V437L
c.1309G>C
2 papers
NM_198963.3
p.R386H
c.1157G>A
1 paper
NM_198963.3
p.P459T
c.1375C>A
1 paper
NM_198963.3
p.P469Q
c.1406C>A
1 paper
NM_198963.3
p.V331V
c.993T>A
1 paper
NM_198963.3
p.S288F
c.863C>T
1 paper
NM_198963.3
p.I264T
c.791T>C
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