Varaico: Literature-Extracted Genetic Variants

Gene:ZSCAN4
Variant:p.E387K

ZSCAN4

26 papers

RefSeq Summary

The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining n...

Pfam Domains

SCANaa 40–129UCSCSCAN domain
zf-C2H2aa 312–334UCSCZinc finger, C2H2 type
zf-C2H2aa 340–362UCSCZinc finger, C2H2 type
zf-C2H2aa 368–390UCSCZinc finger, C2H2 type
zf-C2H2aa 396–418UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger and SCAN domain containing 4

HGNC Previous Symbol

ZNF494

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152677.4
p.E387K
c.1159G>A
Surrounding Variants
1 paper
NM_152677.4
p.D354E
c.1062C>A
1 paper
NM_152677.4
p.D354E
c.1062C>G
1 paper
NM_152677.4
p.G348D
c.1043G>A
1 paper
NM_152677.4
p.K347K
c.1041A>G
1 paper
NM_152677.4
p.R335K
c.1004G>A
1 paper
NM_152677.4
p.R245S
c.735A>C
1 paper
NM_152677.4
p.R245S
c.735A>T
1 paper
NM_152677.4
p.I220M
c.660C>G
1 paper
NM_152677.4
p.N211_G213del0
c.631_639del9
1 paper
NM_152677.4
p.P174P
c.522C>A
1 paper
NM_152677.4
p.Q138*
c.412C>T
1 paper
NM_152677.4
p.H136R
c.407A>G
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