Varaico: Literature-Extracted Genetic Variants

Gene:ZNF512
Variant:p.E352K

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.E352K
c.1054G>A
Surrounding Variants
1 paper
NM_032434.4
p.R376*
c.1126C>T
1 paper
NM_032434.4
p.G278G
c.834G>T
1 paper
NM_032434.4
p.E256_S257Splc
c.769-2A>T
1 paper
NM_032434.4
p.E256_S257Splc
c.768+57G>A
1 paper
NM_032434.4
p.K246R
c.737A>G
1 paper
NM_032434.4
p.L223_P224Splc
c.669+2T>C
1 paper
NM_032434.4
p.L206F
c.616C>T
1 paper
NM_032434.4
p.K377_L378Splc
c.1132-7C>G
1 paper
NM_032434.4
p.R382H
c.1145G>A
1 paper
NM_032434.4
p.S138Y
c.413C>A
1 paper
NM_032434.4
p.S421C
c.1262C>G
1 paper
NM_032434.4
p.S98*
c.293C>A
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