Varaico: Literature-Extracted Genetic Variants

PATZ1

63 papers

RefSeq Summary

The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation...

Pfam Domains

BTBaa 30–160UCSCBTB/POZ domain

zf-C2H2aa 355–377UCSCZinc finger, C2H2 type

zf-C2H2aa 383–405UCSCZinc finger, C2H2 type

zf-C2H2aa 413–436UCSCZinc finger, C2H2 type

zf-C2H2_6aa 442–467UCSCC2H2-type zinc finger

zf-C2H2aa 496–518UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

POZ/BTB and AT hook containing zinc finger 1

HGNC Previous Symbol

ZNF278

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014323.3

p.P178fs

c.532_533fs

Surrounding Variants

1 paper

NM_014323.3

p.P178delFs

c.533delG

1 paper

NM_014323.3

p.P186delFs

c.556_557delGG

1 paper

NM_014323.3

p.D188Y

c.562G>T

1 paper

NM_014323.3

p.L195W

c.584T>G

1 paper

NM_014323.3

p.G201D

c.602G>A

1 paper

NM_014323.3

p.G201delFs

c.602_603delGC

1 paper

NM_014323.3

p.S205C

c.613A>T

1 paper

NM_014323.3

p.E209V

c.626A>T

1 paper

NM_014323.3

p.L136L

c.408C>G

1 paper

NM_014323.3

p.S225S

c.675T>G

1 paper

NM_014323.3

p.R129H

c.386G>A

1 paper

NM_014323.3

p.V127M

c.379G>A