Varaico: Literature-Extracted Genetic Variants

Gene:ZNF462
Variant:p.E1833K

ZNF462

182 papers

RefSeq Summary

The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicin...

Pfam Domains

zf-C2H2_ZNF462aa 1–31UCSCZinc finger protein 462, C2H2 zinc finger
zf-C2H2_ZNF462_1staa 106–134UCSCZinc finger protein 462, first C2H2 zinc finger
zf-C2H2_2nd_ZNF462aa 160–189UCSCZinc finger protein 462, second C2H2 zinc finger
zf-C2H2_7th_ZNF462aa 839–880UCSCZinc finger protein 462, seventh C2H2 zinc finger
zf-C2H2_7th_ZNF462aa 921–962UCSCZinc finger protein 462, seventh C2H2 zinc finger
zf-C2H2_7th_ZNF462aa 1026–1067UCSCZinc finger protein 462, seventh C2H2 zinc finger

Gene Aliases

HGNC Name

zinc finger protein 462

HGNC Alias Symbols

DKFZP762N2316; KIAA1803; Zfp462

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021224.6
p.E1833K
c.5497G>A
Surrounding Variants
1 paper
NM_021224.6
p.N1828S
c.5483A>G
1 paper
NM_021224.6
p.A1838P
c.5512G>C
3 papers
NM_021224.6
p.V1810I
c.5428G>A
2 papers
NM_021224.6
p.A1809A
c.5427C>T
1 paper
NM_021224.6
p.T1808fs
c.5422_5423fs
1 paper
NM_021224.6
p.T1808_V1810delFs
c.5422_5428del7
1 paper
NM_021224.6
p.H1865R
c.5594A>G
1 paper
NM_021224.6
p.A1800A
c.5400C>T
1 paper
NM_021224.6
p.S1871G
c.5611A>G
1 paper
NM_021224.6
p.F1794L
c.5382C>A
1 paper
NM_021224.6
p.F1794L
c.5382C>G
2 papers
NM_021224.6
p.R1872_K1875del4
c.5614_5624del12
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."