Varaico: Literature-Extracted Genetic Variants

ZNF512

30 papers

RefSeq Summary

This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processe...

Pfam Domains

ZNF512_C2HCaa 156–193UCSCZinc finger protein 512, C2HC zinc finger

ZNF512_zf-C2H2aa 199–218UCSCZinc finger 512, zinc fingers

zf-C2H2aa 287–310UCSCZinc finger, C2H2 type

ZNF512_C2HCaa 393–431UCSCZinc finger protein 512, C2HC zinc finger

Gene Aliases

HGNC Name

zinc finger protein 512

HGNC Alias Symbol

KIAA1805

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032434.4

p.R72Q

c.215G>A

Surrounding Variants

1 paper

NM_032434.4

p.D66Y

c.196G>T

1 paper

NM_032434.4

p.I46N

c.137T>A

1 paper

NM_032434.4

p.S98*

c.293C>A

1 paper

NM_032434.4

p.S98*

c.293C>G

1 paper

NM_032434.4

p.S138Y

c.413C>A

1 paper

NM_032434.4

p.L206F

c.616C>T

1 paper

NM_032434.4

p.L223_P224Splc

c.669+2T>C

1 paper

NM_032434.4

p.K246R

c.737A>G

1 paper

NM_032434.4

p.E256_S257Splc

c.768+57G>A

1 paper

NM_032434.4

p.E256_S257Splc

c.769-2A>T

1 paper

NM_032434.4

p.G278G

c.834G>T

1 paper

NM_032434.4

p.E352K

c.1054G>A