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

1 paper

NM_001109809.5

p.L319_D320del1

c.956_958delCCA

Surrounding Variants

1 paper

NM_001109809.5

p.G317_L318del2

c.949_953del6

1 paper

NM_001109809.5

p.L318H

c.953T>A

1 paper

NM_001109809.5

p.R313G

c.937A>G

1 paper

NM_001109809.5

p.P332S

c.994C>T

1 paper

NM_001109809.5

p.I308I

c.924C>T

1 paper

NM_001109809.5

p.T336I

c.1007C>T

1 paper

NM_001109809.5

p.M340I

c.1020G>T

1 paper

NM_001109809.5

p.M340I

c.1020G>C

1 paper

NM_001109809.5

p.M340I

c.1020G>A

1 paper

NM_001109809.5

p.Q342fs

c.1024_1025fs

1 paper

NM_001109809.5

p.Q342delFs

c.1024delG

1 paper

NM_001109809.5

p.P298S

c.892C>T