Varaico: Literature-Extracted Genetic Variants

Gene:ZNF462
Variant:p.L2164V

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.L2164V
c.6490C>G
Surrounding Variants
1 paper
NM_021224.6
p.P2150fs
c.6448_6449fs
1 paper
NM_021224.6
p.P2150delFs
c.6449delC
5 papers
NM_021224.6
p.S2144*
c.6431C>A
3 papers
NM_021224.6
p.S2144*
c.6431C>G
1 paper
NM_021224.6
p.G2201S
c.6601G>A
1 paper
NM_021224.6
p.R2207_R2208ins10
c.6619_6623ins30
5 papers
NM_021224.6
p.R2211delFs
c.6631delC
5 papers
NM_021224.6
p.R2211fs
c.6631_6632fs
1 paper
NM_021224.6
p.D2224fs
c.6670_6671fs
1 paper
NM_021224.6
p.D2224insFs
c.6671_6672insG
1 paper
NM_021224.6
p.K2232fs
c.6694_6695fs
1 paper
NM_021224.6
p.K2232_A2241delFs
c.6696_6721del26
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."