Varaico: Literature-Extracted Genetic Variants

ZNF43

55 papers

RefSeq Summary

This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene produ...

Pfam Domains

KRABaa 3–44UCSCKRAB box

zf-C2H2aa 174–196UCSCZinc finger, C2H2 type

zf-C2H2_6aa 230–254UCSCC2H2-type zinc finger

zf-C2H2aa 286–308UCSCZinc finger, C2H2 type

zf-C2H2aa 314–336UCSCZinc finger, C2H2 type

zf-C2H2aa 342–364UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 43

HGNC Previous Symbol

ZNF39L1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 74 variants

3 papers

NM_003423.4

p.N251fs

c.751_752fs

2 papers

NM_003423.4

p.N251insFs

c.752dupA

2 papers

NM_003423.4

p.F593L

c.1777T>C

2 papers

NM_003423.4

p.F593L

c.1779C>G

2 papers

NM_003423.4

p.F593L

c.1779C>A

2 papers

NM_003423.4

p.K710E

c.2128A>G

1 paper

NM_003423.4

p.M1V

c.1A>G

1 paper

NM_003423.4

p.G2G

c.6A>G

1 paper

NM_003423.4

p.L52L

c.156G>A

1 paper

NM_003423.4

p.P75S

c.223C>T

1 paper

NM_003423.4

p.H81Y

c.241C>T

1 paper

NM_003423.4

p.K98N

c.294A>T