Varaico: Literature-Extracted Genetic Variants

Gene:ZNF462
Variant:p.Y1599N

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.Y1599N
c.4795T>A
Surrounding Variants
2 papers
NM_021224.6
p.K1598*
c.4792A>T
1 paper
NM_021224.6
p.H1595fs
c.4783_4784fs
1 paper
NM_021224.6
p.H1595delFs
c.4784_4785delAC
1 paper
NM_021224.6
p.Q1610delFs
c.4828delC
1 paper
NM_021224.6
p.P1583L
c.4748C>T
1 paper
NM_021224.6
p.E1626D
c.4878A>C
1 paper
NM_021224.6
p.E1626D
c.4878A>T
1 paper
NM_021224.6
p.Q1631*
c.4891C>T
1 paper
NM_021224.6
p.V1644M
c.4930G>A
1 paper
NM_021224.6
p.S1645F
c.4934C>T
1 paper
NM_021224.6
p.V1549A
c.4646T>C
1 paper
NM_021224.6
p.P1539P
c.4617G>A
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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."