Varaico: Literature-Extracted Genetic Variants

ZNF536

134 papers

RefSeq Summary

The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, ...

Pfam Domains

zf-C2H2aa 130–152UCSCZinc finger, C2H2 type

zf-H2C2_5aa 158–182UCSCC2H2-type zinc-finger domain

zf-C2H2aa 345–367UCSCZinc finger, C2H2 type

zf-C2H2aa 631–653UCSCZinc finger, C2H2 type

zf-C2H2_assocaa 657–737UCSCUnstructured conserved, between two C2H2-type zinc-fingers

zf-C2H2aa 752–773UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 536

HGNC Alias Symbol

KIAA0390

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014717.3

p.R166M

c.497G>T

Surrounding Variants

1 paper

NM_014717.3

p.P161R

c.482C>G

1 paper

NM_014717.3

p.T153M

c.458C>T

1 paper

NM_014717.3

p.M149insFs

c.446_447ins4

1 paper

NM_014717.3

p.M149fs

c.445_446fs

1 paper

NM_014717.3

p.N184D

c.550A>G

1 paper

NM_014717.3

p.G186C

c.556G>T

1 paper

NM_014717.3

p.N142Y

c.424A>T

1 paper

NM_014717.3

p.R193R

c.579C>T

1 paper

NM_014717.3

p.C135fs

c.403_404fs

1 paper

NM_014717.3

p.L198_L199delFs

c.594_597del4

2 papers

NM_014717.3

p.P133L

c.398C>T

1 paper

NM_014717.3

p.E204fs

c.610_611fs