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.P1211A

c.3631C>G

Surrounding Variants

1 paper

NM_014717.3

p.V1218I

c.3652G>A

1 paper

NM_014717.3

p.S1203S

c.3609C>T

1 paper

NM_014717.3

p.G1220*

c.3658G>T

1 paper

NM_014717.3

p.S1223*

c.3668C>A

1 paper

NM_014717.3

p.S1223*

c.3668C>G

1 paper

NM_014717.3

p.A1196D

c.3587C>A

1 paper

NM_014717.3

p.T1191S

c.3572C>G

1 paper

NM_014717.3

p.T1191S

c.3571A>T

1 paper

NM_014717.3

p.H1234D

c.3700C>G

1 paper

NM_014717.3

p.P1187P

c.3561G>A

1 paper

NM_014717.3

p.Q1240fs

c.3718_3719fs

1 paper

NM_014717.3

p.D1179N

c.3535G>A