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.C433F

c.1298G>T

Surrounding Variants

1 paper

NM_014717.3

p.L434Q

c.1301T>A

1 paper

NM_014717.3

p.Y430N

c.1288T>A

1 paper

NM_014717.3

p.S428T

c.1282T>A

1 paper

NM_014717.3

p.P441L

c.1322C>T

1 paper

NM_014717.3

p.A424T

c.1270G>A

1 paper

NM_014717.3

p.H423fs

c.1267_1268fs

1 paper

NM_014717.3

p.H423delFs

c.1268delA

1 paper

NM_014717.3

p.E421E

c.1263G>A

1 paper

NM_014717.3

p.L446_S447ins4

c.1336_1340ins12

1 paper

NM_014717.3

p.L446L

c.1338G>A

1 paper

NM_014717.3

p.G417D

c.1250G>A

1 paper

NM_014717.3

p.V401A

c.1202T>C