Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.L831I

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
1 paper
NM_001282531.3
p.L831I
c.2491T>A
Surrounding Variants
13 papers
NM_001282531.3
p.L831fs
c.2491_2492fs
24 papers
NM_001282531.3
p.N832fs
c.2494_2495fs
14 papers
NM_001282531.3
p.L831_N832delFs
c.2491_2494del4
1 paper
NM_001282531.3
p.N832fs
c.2494_2495fs
2 papers
NM_001282531.3
p.N832K
c.2496T>G
2 papers
NM_001282531.3
p.N832K
c.2496T>A
1 paper
NM_001282531.3
p.K833delFs
c.2499delT
20 papers
NM_001282531.3
p.N832_K833delFs
c.2496_2499del4
3 papers
NM_001282531.3
p.N832_K833delFs
c.2495_2499del5
1 paper
NM_001282531.3
p.V834fs
c.2500_2501fs
1 paper
NM_001282531.3
p.G825G
c.2475G>T
1 paper
NM_001282531.3
p.H836Q
c.2508T>G
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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."