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.Y462C

c.1385A>G

Surrounding Variants

2 papers

NM_001109809.5

p.G461delFs

c.1383delG

1 paper

NM_001109809.5

p.Y462fs

c.1384_1385fs

1 paper

NM_001109809.5

p.R460S

c.1380G>T

1 paper

NM_001109809.5

p.R460S

c.1380G>C

3 papers

NM_001109809.5

p.H458D

c.1372C>G

1 paper

NM_001109809.5

p.D466E

c.1398C>G

1 paper

NM_001109809.5

p.D466E

c.1398C>A

1 paper

NM_001109809.5

p.Q469delFs

c.1405delG

1 paper

NM_001109809.5

p.Q469H

c.1407G>T

2 papers

NM_001109809.5

p.Q469fs

c.1405_1406fs

1 paper

NM_001109809.5

p.Q469H

c.1407G>C

1 paper

NM_001109809.5

p.G450R

c.1348G>C