Varaico: Literature-Extracted Genetic Variants

ZKSCAN1

40 papers

RefSeq Summary

This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors i...

Pfam Domains

SCANaa 16–105UCSCSCAN domain

KRABaa 190–228UCSCKRAB box

zf-C2H2aa 341–363UCSCZinc finger, C2H2 type

zf-C2H2aa 369–391UCSCZinc finger, C2H2 type

zf-C2H2aa 397–419UCSCZinc finger, C2H2 type

zf-C2H2aa 425–447UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger with KRAB and SCAN domains 1

HGNC Previous Symbol

ZNF139

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003439.4

p.Y260C

c.779A>G

Surrounding Variants

1 paper

NM_003439.4

p.S252R

c.756T>A

1 paper

NM_003439.4

p.S252R

c.756T>G

1 paper

NM_003439.4

p.S252R

c.754A>C

1 paper

NM_003439.4

p.R249W

c.745A>T

1 paper

NM_003439.4

p.R248W

c.742C>T

1 paper

NM_003439.4

p.Q244R

c.731A>G

2 papers

NM_003439.4

p.P201A

c.601C>G

1 paper

NM_003439.4

p.R271R

c.813G>A

1 paper

NM_003439.4

p.S297delFs

c.890delC

1 paper

NM_003439.4

p.E308*

c.922G>T

1 paper

NM_003439.4

p.K322delFs

c.964_965delAA

1 paper

NM_003439.4

p.K322del1

c.964_965delAAA