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

1–12 of 66 variants

2 papers

NM_014323.3

p.R34L

c.101G>T

1 paper

NM_014323.3

p.M1T

c.2T>C

1 paper

NM_014323.3

p.M1_E2insFs

c.3_4insA

1 paper

NM_014323.3

p.E25K

c.73G>A

1 paper

NM_014323.3

p.P53Q

c.158C>A

1 paper

NM_014323.3

p.D76D

c.228C>T

1 paper

NM_014323.3

p.A79fs

c.235_236fs

1 paper

NM_014323.3

p.A85V

c.254C>T

1 paper

NM_014323.3

p.T91A

c.271A>G

1 paper

NM_014323.3

p.A98A

c.294C>A

1 paper

NM_014323.3

p.A121S

c.361G>T

1 paper

NM_014323.3

p.V127M

c.379G>A