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

2 papers

NM_014717.3

p.R803Q

c.2408G>A

Surrounding Variants

1 paper

NM_014717.3

p.Y796*

c.2388C>A

1 paper

NM_014717.3

p.Y796*

c.2388C>G

1 paper

NM_014717.3

p.G814W

c.2440G>T

1 paper

NM_014717.3

p.P816S

c.2446C>T

1 paper

NM_014717.3

p.A787D

c.2360C>A

1 paper

NM_014717.3

p.A829T

c.2485G>A

1 paper

NM_014717.3

p.A829S

c.2485G>T

1 paper

NM_014717.3

p.G862V

c.2585G>T

1 paper

NM_014717.3

p.V863F

c.2587G>T

1 paper

NM_014717.3

p.T874A

c.2620A>G

1 paper

NM_014717.3

p.A884V

c.2651C>T

1 paper

NM_014717.3

p.I900N

c.2699T>A