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

1–12 of 41 variants

2 papers

NM_003439.4

p.P201A

c.601C>G

2 papers

NM_003439.4

p.P332S

c.994C>T

1 paper

NM_003439.4

p.R7W

c.19C>T

1 paper

NM_003439.4

p.P50S

c.148C>T

1 paper

NM_003439.4

p.N66S

c.197A>G

1 paper

NM_003439.4

p.R76Q

c.227G>A

1 paper

NM_003439.4

p.Q83*

c.247C>T

1 paper

NM_003439.4

p.R86W

c.256C>T

1 paper

NM_003439.4

p.Q103L

c.308A>T

1 paper

NM_003439.4

p.L105P

c.314T>C

1 paper

NM_003439.4

p.L108delFs

c.322delC

1 paper

NM_003439.4

p.Q113*

c.337C>T