Varaico: Literature-Extracted Genetic Variants

ZNF443

50 papers

RefSeq Summary

Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general desc...

Pfam Domains

KRABaa 3–43UCSCKRAB box

zf-C2H2aa 169–190UCSCZinc finger, C2H2 type

zf-C2H2aa 225–247UCSCZinc finger, C2H2 type

zf-C2H2aa 253–275UCSCZinc finger, C2H2 type

zf-C2H2aa 309–331UCSCZinc finger, C2H2 type

zf-C2H2aa 337–359UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 443

HGNC Alias Symbol

ZK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005815.5

p.R521*

c.1561C>T

Surrounding Variants

1 paper

NM_005815.5

p.R515C

c.1543C>T

1 paper

NM_005815.5

p.G542S

c.1624G>A

1 paper

NM_005815.5

p.G556V

c.1667G>T

1 paper

NM_005815.5

p.C485F

c.1454G>T

2 papers

NM_005815.5

p.G482fs

c.1444_1445fs

3 papers

NM_005815.5

p.G482insFs

c.1444_1445insCA

2 papers

NM_005815.5

p.G482R

c.1444G>C

2 papers

NM_005815.5

p.G482R

c.1444G>A

1 paper

NM_005815.5

p.L481_G482delins

c.1442_1444delinsGCA

2 papers

NM_005815.5

p.L481R

c.1442T>G

2 papers

NM_005815.5

p.K480T

c.1439A>C

2 papers

NM_005815.5

p.E579G

c.1736A>G