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.S272A

c.814T>G

Surrounding Variants

1 paper

NM_001109809.5

p.E273A

c.818A>C

1 paper

NM_001109809.5

p.D270A

c.809A>C

1 paper

NM_001109809.5

p.L274F

c.820C>T

1 paper

NM_001109809.5

p.R269W

c.805C>T

1 paper

NM_001109809.5

p.R276H

c.827G>A

4 papers

NM_001109809.5

p.H277N

c.829C>A

1 paper

NM_001109809.5

p.I280fs

c.838_839fs

3 papers

NM_001109809.5

p.C261*

c.783C>A

1 paper

NM_001109809.5

p.K279_Q282delFs

c.837_844del8

1 paper

NM_001109809.5

p.I280_Q282delFs

c.839_846del8

1 paper

NM_001109809.5

p.E285D

c.855G>C

1 paper

NM_001109809.5

p.R257Q

c.770G>A