Varaico: Literature-Extracted Genetic Variants

Gene:ZNF530
Variant:p.H77Q

ZNF530

17 papers

Pfam Domains

KRABaa 1–21UCSCKRAB box
zf-C2H2aa 206–228UCSCZinc finger, C2H2 type
zf-C2H2aa 234–256UCSCZinc finger, C2H2 type
zf-C2H2aa 262–284UCSCZinc finger, C2H2 type
zf-C2H2aa 290–312UCSCZinc finger, C2H2 type
zf-C2H2aa 318–340UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 530

HGNC Alias Symbol

KIAA1508

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001321981.2
p.H77Q
c.231T>G
Surrounding Variants
1 paper
NM_001321981.2
p.H77Q
c.231T>A
1 paper
NM_001321981.2
p.G89delFs
c.265_266delGG
1 paper
NM_001321981.2
p.G89del1
c.265_266delGGA
1 paper
NM_001321981.2
p.T64S
c.191C>G
1 paper
NM_001321981.2
p.T64S
c.190A>T
1 paper
NM_001321981.2
p.H101Y
c.301C>T
1 paper
NM_001321981.2
p.G30delFs
c.89delG
1 paper
NM_001321981.2
p.G21Splc
c.62-2A>T
1 paper
NM_001321981.2
p.S191C
c.572C>G
1 paper
NM_001321981.2
p.S265_E266del2
c.793_797del6
1 paper
NM_001321981.2
p.R272S
c.814C>A
1 paper
NM_001321981.2
p.L305I
c.913C>A
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