Varaico: Literature-Extracted Genetic Variants

Gene:ZKSCAN2
Variant:p.L253R

ZKSCAN2

57 papers

Pfam Domains

SCANaa 41–130UCSCSCAN domain
KRABaa 232–269UCSCKRAB box
Myb_DNA-bind_4aa 340–425UCSCMyb/SANT-like DNA-binding domain
Myb_DNA-bind_4aa 497–582UCSCMyb/SANT-like DNA-binding domain
zf-C2H2aa 775–797UCSCZinc finger, C2H2 type
zf-C2H2aa 803–825UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger with KRAB and SCAN domains 2

HGNC Previous Symbol

ZNF694

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001012981.5
p.L253R
c.758T>G
Surrounding Variants
1 paper
NM_001012981.5
p.L253F
c.757C>T
1 paper
NM_001012981.5
p.S267F
c.800C>T
1 paper
NM_001012981.5
p.W209*
c.627G>A
1 paper
NM_001012981.5
p.W209*
c.626G>A
1 paper
NM_001012981.5
p.E208*
c.622G>T
1 paper
NM_001012981.5
p.S177L
c.530C>T
1 paper
NM_001012981.5
p.L333F
c.999A>T
1 paper
NM_001012981.5
p.L333F
c.999A>C
3 papers
NM_001012981.5
p.D335E
c.1005T>G
3 papers
NM_001012981.5
p.D335E
c.1005T>A
1 paper
NM_001012981.5
p.K337N
c.1011G>T
1 paper
NM_001012981.5
p.K337N
c.1011G>C
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