Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.S738*

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
9 papers
NM_001282531.3
p.S738*
c.2213C>A
Surrounding Variants
8 papers
NM_001282531.3
p.S738*
c.2213C>G
1 paper
NM_001282531.3
p.S736insFs
c.2206_2207insA
1 paper
NM_001282531.3
p.D735del1
c.2203_2204delATC
2 papers
NM_001282531.3
p.F741insFs
c.2222dupT
1 paper
NM_001282531.3
p.F742fs
c.2224_2225fs
6 papers
NM_001282531.3
p.L732_D733delFs
c.2194_2197del4
3 papers
NM_001282531.3
p.E744*
c.2230G>T
1 paper
NM_001282531.3
p.L732delFs
c.2195delA
2 papers
NM_001282531.3
p.L732*
c.2195T>G
2 papers
NM_001282531.3
p.L732*
c.2195T>A
1 paper
NM_001282531.3
p.E744delFs
c.2231delT
1 paper
NM_001282531.3
p.L732fs
c.2194_2195fs
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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."