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

3 papers

NM_001109809.5

p.R125*

c.373C>T

Surrounding Variants

2 papers

NM_001109809.5

p.L124delFs

c.372delA

1 paper

NM_001109809.5

p.R125fs

c.373_374fs

1 paper

NM_001109809.5

p.G135fs

c.403_404fs

1 paper

NM_001109809.5

p.D138V

c.413A>T

1 paper

NM_001109809.5

p.C145F

c.434G>T

1 paper

NM_001109809.5

p.G147R

c.439G>A

1 paper

NM_001109809.5

p.G149S

c.445G>A

1 paper

NM_001109809.5

p.L153fs

c.457_458fs

1 paper

NM_001109809.5

p.L153delFs

c.458delA

1 paper

NM_001109809.5

p.S154S

c.462T>G

1 paper

NM_001109809.5

p.T159S

c.475A>T

1 paper

NM_001109809.5

p.T159S

c.476C>G