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.G485W

c.1453G>T

Surrounding Variants

1 paper

NM_003439.4

p.R481T

c.1442G>C

1 paper

NM_001287054.3

p.F434L

c.1302C>A

1 paper

NM_001287054.3

p.F434L

c.1302C>G

1 paper

NM_001287054.3

p.F434L

c.1300T>C

1 paper

NM_003439.4

p.E458D

c.1374G>T

1 paper

NM_003439.4

p.S445T

c.1334G>C

1 paper

NM_003439.4

p.R528C

c.1582C>T

1 paper

NM_003439.4

p.R541fs

c.1621_1622fs

1 paper

NM_003439.4

p.I398N

c.1193T>A

1 paper

NM_003439.4

p.H395R

c.1184A>G

1 paper

NM_003439.4

p.K375delFs

c.1123_1124delAA

2 papers

NM_003439.4

p.P332S

c.994C>T