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.G734A

c.2201G>C

Surrounding Variants

1 paper

NM_014717.3

p.G734S

c.2200G>A

3 papers

NM_014717.3

p.V735I

c.2203G>A

1 paper

NM_014717.3

p.Q736R

c.2207A>G

1 paper

NM_014717.3

p.E728E

c.2184G>A

1 paper

NM_014717.3

p.R742C

c.2224C>T

3 papers

NM_014717.3

p.R742H

c.2225G>A

3 papers

NM_014717.3

p.D743N

c.2227G>A

1 paper

NM_014717.3

p.G747C

c.2239G>T

1 paper

NM_014717.3

p.R761W

c.2281C>T

1 paper

NM_014717.3

p.S763C

c.2288C>G

1 paper

NM_014717.3

p.S763F

c.2288C>T

1 paper

NM_014717.3

p.S763S

c.2289C>T