Varaico: Literature-Extracted Genetic Variants

Gene:ZNF462
Variant:p.S1246R

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.S1246R
c.3738C>G
Surrounding Variants
1 paper
NM_021224.6
p.S1246R
c.3738C>A
1 paper
NM_021224.6
p.S1246R
c.3736A>C
1 paper
NM_021224.6
p.L1249_V1250del2
c.3745_3749del6
1 paper
NM_021224.6
p.L1249_V1250delFs
c.3747_3748delTG
6 papers
NM_021224.6
p.R1234_S1235insAA
c.3700_3704ins6
1 paper
NM_021224.6
p.T1260M
c.3779C>T
9 papers
NM_021224.6
p.R1263*
c.3787C>T
1 paper
NM_021224.6
p.T1230M
c.3689C>T
2 papers
NM_021224.6
p.F1277delFs
c.3831delC
2 papers
NM_021224.6
p.Y1278fs
c.3832_3833fs
1 paper
NM_021224.6
p.L1209F
c.3625C>T
1 paper
NM_021224.6
p.K1206Q
c.3616A>C
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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."