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.K483Q

c.1447A>C

Surrounding Variants

1 paper

NM_032434.4

p.R494W

c.1480C>T

1 paper

NM_032434.4

p.S500I

c.1499G>T

1 paper

NM_032434.4

p.R507W

c.1519C>T

1 paper

NM_032434.4

p.I512L

c.1534A>C

1 paper

NM_032434.4

p.E516E

c.1548G>A

1 paper

NM_032434.4

p.L534M

c.1600C>A

1 paper

NM_032434.4

p.C540ins1

c.1619_1620insCTC

1 paper

NM_032434.4

p.T560P

c.1678A>C

1 paper

NM_032434.4

p.L432_G433Splc

c.1296+4T>C

1 paper

NM_032434.4

p.S421C

c.1262C>G

1 paper

NM_032434.4

p.R382H

c.1145G>A

1 paper

NM_032434.4

p.K377_L378Splc

c.1132-7C>G