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

1–12 of 112 variants

5 papers

NM_001109809.5

p.C241*

c.723T>A

4 papers

NM_001109809.5

p.R248H

c.743G>A

4 papers

NM_001109809.5

p.H277N

c.829C>A

3 papers

NM_001109809.5

p.R125*

c.373C>T

3 papers

NM_001109809.5

p.R257R

c.769C>A

3 papers

NM_001109809.5

p.C261*

c.783C>A

3 papers

NM_001109809.5

p.H374D

c.1120C>G

3 papers

NM_001109809.5

p.H458D

c.1372C>G

2 papers

NM_001109809.5

p.L124delFs

c.372delA

2 papers

NM_001109809.5

p.R187C

c.559C>T

2 papers

NM_001109809.5

p.S217F

c.650C>T

2 papers

NM_001109809.5

p.R250C

c.748C>T