Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.G288fs

ADNP

289 papers

RefSeq Summary

Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregu...

Pfam Domains

ADNP_Naa 2–130UCSCActivity-dependent neuroprotector homeobox protein N-terminal
zf-C2H2_Adnp2aa 446–471UCSCAdnp2-like, C2H2-type zinc finger
Homeodomainaa 765–813UCSCHomeodomain

Gene Aliases

HGNC Name

activity dependent neuroprotector homeobox

HGNC Alias Symbols

KIAA0784; ADNP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001282531.3
p.G288fs
c.862_863fs
Surrounding Variants
2 papers
NM_001282531.3
p.I287_G288insFs
c.859_862dup4
2 papers
NM_001282531.3
p.P285_R286delFs
c.853_857del5
1 paper
NM_001282531.3
p.P284delFs
c.851delG
1 paper
NM_001282531.3
p.P284fs
c.850_851fs
1 paper
NM_001282531.3
p.G282delFs
c.845delC
1 paper
NM_001282531.3
p.R296fs
c.886_887fs
1 paper
NM_001282531.3
p.V295delFs
c.885delG
1 paper
NM_001282531.3
p.L298*
c.893T>G
1 paper
NM_001282531.3
p.L298*
c.893T>A
1 paper
NM_001282531.3
p.Q276*
c.826C>T
1 paper
NM_001282531.3
p.K274N
c.822A>T
1 paper
NM_001282531.3
p.K274N
c.822A>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."