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.D306Y

c.916G>T

Surrounding Variants

1 paper

NM_014717.3

p.A308V

c.923C>T

1 paper

NM_014717.3

p.S310L

c.929C>T

1 paper

NM_014717.3

p.E312K

c.934G>A

1 paper

NM_014717.3

p.E314delFs

c.941delA

1 paper

NM_014717.3

p.E288G

c.863A>G

1 paper

NM_014717.3

p.E287K

c.859G>A

1 paper

NM_014717.3

p.R286C

c.856C>T

1 paper

NM_014717.3

p.S328S

c.984G>A

1 paper

NM_014717.3

p.Q332L

c.995A>T

1 paper

NM_014717.3

p.T277A

c.829A>G

1 paper

NM_014717.3

p.T277S

c.829A>T

1 paper

NM_014717.3

p.R275C

c.823C>T