Varaico: Literature-Extracted Genetic Variants

Gene:ZSCAN4
Variant:p.L62F

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
1 paper
NM_152677.4
p.L62F
c.186G>C
Surrounding Variants
1 paper
NM_152677.4
p.L62F
c.186G>T
1 paper
NM_152677.4
p.L65F
c.193C>T
1 paper
NM_152677.4
p.S71del1
c.211_213delTCA
1 paper
NM_152677.4
p.S53N
c.158G>A
1 paper
NM_152677.4
p.L47I
c.139C>A
1 paper
NM_152677.4
p.V88F
c.262G>T
1 paper
NM_152677.4
p.E37K
c.109G>A
1 paper
NM_152677.4
p.A24A
c.72G>A
1 paper
NM_152677.4
p.A102A
c.306C>G
1 paper
NM_152677.4
p.R117K
c.350G>A
1 paper
NM_152677.4
p.H136R
c.407A>G
1 paper
NM_152677.4
p.Q138*
c.412C>T
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