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.W524*

c.1572G>A

Surrounding Variants

1 paper

NM_014717.3

p.W524*

c.1571G>A

1 paper

NM_014717.3

p.G530C

c.1588G>T

1 paper

NM_014717.3

p.E514D

c.1542G>C

1 paper

NM_014717.3

p.E514D

c.1542G>T

1 paper

NM_014717.3

p.G536S

c.1606G>A

1 paper

NM_014717.3

p.A509fs

c.1525_1526fs

1 paper

NM_014717.3

p.R505W

c.1513C>T

1 paper

NM_014717.3

p.P497L

c.1490C>T

1 paper

NM_014717.3

p.P496S

c.1486C>T

1 paper

NM_014717.3

p.G570E

c.1709G>A

1 paper

NM_014717.3

p.G479R

c.1435G>C

1 paper

NM_014717.3

p.A477insFs

c.1430_1431insT