Varaico: Literature-Extracted Genetic Variants

Gene:ZSCAN22
Variant:p.R49H

ZSCAN22

30 papers

Pfam Domains

SCANaa 45–134UCSCSCAN domain
SCANaa 45–134UCSCSCAN domain
zf-C2H2aa 268–290UCSCZinc finger, C2H2 type
zf-C2H2aa 296–318UCSCZinc finger, C2H2 type
zf-C2H2aa 324–346UCSCZinc finger, C2H2 type
zf-C2H2aa 352–374UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger and SCAN domain containing 22

HGNC Previous Symbol

HKR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181846.3
p.R49H
c.146G>A
Surrounding Variants
1 paper
NM_181846.3
p.R56H
c.167G>A
1 paper
NM_181846.3
p.R71Q
c.212G>A
1 paper
NM_181846.3
p.E25K
c.73G>A
1 paper
NM_181846.3
p.I3V
c.7A>G
1 paper
NM_181846.3
p.P114A
c.340C>G
2 papers
NM_181846.3
p.Q129L
c.386A>T
1 paper
NM_181846.3
p.I202_H203delins
c.606_607delinsAG
1 paper
NM_181846.3
p.H203D
c.607C>G
1 paper
NM_181846.3
p.S231T
c.692G>C
1 paper
NM_181846.3
p.A232V
c.695C>T
1 paper
NM_181846.3
p.R271H
c.812G>A
1 paper
NM_181846.3
p.A321V
c.962C>T
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