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

1–12 of 180 variants

3 papers

NM_014717.3

p.V735I

c.2203G>A

3 papers

NM_014717.3

p.R742H

c.2225G>A

3 papers

NM_014717.3

p.D743N

c.2227G>A

2 papers

NM_014717.3

p.P133L

c.398C>T

2 papers

NM_014717.3

p.G273D

c.818G>A

2 papers

NM_014717.3

p.R655W

c.1963C>T

2 papers

NM_014717.3

p.S682S

c.2046G>A

2 papers

NM_014717.3

p.G734A

c.2201G>C

2 papers

NM_014717.3

p.H764R

c.2291A>G

2 papers

NM_014717.3

p.R803Q

c.2408G>A

2 papers

NM_014717.3

p.L1268I

c.3802C>A

1 paper

NM_014717.3

p.M1V

c.1A>G