Varaico: Literature-Extracted Genetic Variants

Gene:DQX1
Variant:p.L416P

DQX1

49 papers

Pfam Domains

WHD_HA2aa 442–470UCSCHelicase associated domain (HA2), winged-helix
HA2_Caa 471–529UCSCHelicase associated domain (HA2), ratchet-like
OB_NTP_bindaa 591–674UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

Gene Aliases

HGNC Name

DEAQ-box RNA dependent ATPase 1

HGNC Alias Symbol

FLJ23757

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_133637.3
p.L416P
c.1247T>C
Surrounding Variants
2 papers
NM_133637.3
p.L446V
c.1336T>G
1 paper
NM_133637.3
p.D457V
c.1370A>T
1 paper
NM_133637.3
p.A369T
c.1105G>A
1 paper
NM_133637.3
p.A477T
c.1429G>A
1 paper
NM_133637.3
p.R355*
c.1063C>T
1 paper
NM_133637.3
p.V349F
c.1045G>T
1 paper
NM_133637.3
p.S348_V349Splc
c.1044+7G>A
1 paper
NM_133637.3
p.A307A
c.921C>T
1 paper
NM_133637.3
p.D303N
c.907G>A
1 paper
NM_133637.3
p.S282P
c.844T>C
1 paper
NM_133637.3
p.D263Y
c.787G>T
1 paper
NM_133637.3
p.R257W
c.769C>T
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