Varaico: Literature-Extracted Genetic Variants

ZFP57

75 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have ...

Pfam Domains

zf-C2H2aa 103–125UCSCZinc finger, C2H2 type

zf-C2H2aa 132–153UCSCZinc finger, C2H2 type

zf-C2H2aa 159–181UCSCZinc finger, C2H2 type

zf-C2H2aa 187–209UCSCZinc finger, C2H2 type

zf-C2H2aa 341–362UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

ZFP57 zinc finger protein

HGNC Previous Symbol

C6orf40

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001109809.5

p.R187C

c.559C>T

Surrounding Variants

1 paper

NM_001109809.5

p.S192R

c.574A>C

1 paper

NM_001109809.5

p.H193N

c.577C>A

1 paper

NM_001109809.5

p.C177fs

c.529_530fs

1 paper

NM_001109809.5

p.A168V

c.503C>T

1 paper

NM_001109809.5

p.Q167*

c.499C>T

1 paper

NM_001109809.5

p.L166F

c.496C>T

1 paper

NM_001109809.5

p.F212L

c.634T>C

1 paper

NM_001109809.5

p.F212L

c.636T>G

1 paper

NM_001109809.5

p.F212L

c.636T>A

1 paper

NM_001109809.5

p.T159S

c.476C>G

1 paper

NM_001109809.5

p.T159S

c.475A>T

1 paper

NM_001109809.5

p.K210_P215del0

c.630_644del15