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.Q342delFs

c.1024delG

Surrounding Variants

1 paper

NM_001109809.5

p.Q342fs

c.1024_1025fs

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.A345P

c.1033G>C

1 paper

NM_001109809.5

p.T336I

c.1007C>T

1 paper

NM_001109809.5

p.K349R

c.1046A>G

1 paper

NM_001109809.5

p.P332S

c.994C>T

1 paper

NM_001109809.5

p.P353S

c.1057C>T

1 paper

NM_001109809.5

p.R356K

c.1067G>A

1 paper

NM_001109809.5

p.T364_L365insG

c.1090_1094ins3

1 paper

NM_001109809.5

p.T364S

c.1091C>G