Varaico: Literature-Extracted Genetic Variants

Gene:ZNF12
Variant:p.S516*

ZNF12

28 papers

RefSeq Summary

This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental ...

Pfam Domains

KRABaa 7–48UCSCKRAB box
zf-C2H2aa 269–291UCSCZinc finger, C2H2 type
zf-C2H2aa 297–319UCSCZinc finger, C2H2 type
zf-C2H2aa 325–347UCSCZinc finger, C2H2 type
zf-C2H2aa 353–375UCSCZinc finger, C2H2 type
zf-C2H2aa 381–403UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 12

HGNC Previous Symbol

ZNF325

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016265.4
p.S516*
c.1547C>G
Surrounding Variants
1 paper
NM_016265.4
p.S516*
c.1547C>A
1 paper
NM_016265.4
p.S516S
c.1548A>T
1 paper
NM_016265.4
p.Y531C
c.1592A>G
1 paper
NM_016265.4
p.Y493C
c.1478A>G
1 paper
NM_016265.4
p.G555G
c.1665A>C
1 paper
NM_016265.4
p.L476Q
c.1427T>A
1 paper
NM_016265.4
p.I570T
c.1709T>C
1 paper
NM_016265.4
p.S460T
c.1378T>A
1 paper
NM_016265.4
p.R594*
c.1780C>T
1 paper
NM_016265.4
p.Y437*
c.1311T>G
1 paper
NM_016265.4
p.Y437*
c.1311T>A
1 paper
NM_016265.4
p.S422F
c.1265C>T
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