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.S244A

c.730T>G

Surrounding Variants

1 paper

NM_001109809.5

p.G245A

c.734G>C

1 paper

NM_001109809.5

p.D242A

c.725A>C

5 papers

NM_001109809.5

p.C241*

c.723T>A

1 paper

NM_001109809.5

p.R248C

c.742C>T

4 papers

NM_001109809.5

p.R248H

c.743G>A

2 papers

NM_001109809.5

p.R250C

c.748C>T

1 paper

NM_001109809.5

p.R251C

c.751C>T

1 paper

NM_001109809.5

p.L235F

c.703C>T

2 papers

NM_001109809.5

p.L254L

c.760C>T

1 paper

NM_001109809.5

p.H253delFs

c.759delA

3 papers

NM_001109809.5

p.R257R

c.769C>A

1 paper

NM_001109809.5

p.R257Q

c.770G>A