Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.E744delFs

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.E744delFs
c.2231delT
Surrounding Variants
3 papers
NM_001282531.3
p.E744*
c.2230G>T
1 paper
NM_001282531.3
p.E744_K745delFs
c.2231_2235del5
2 papers
NM_001282531.3
p.E747*
c.2239G>T
1 paper
NM_001282531.3
p.F742fs
c.2224_2225fs
2 papers
NM_001282531.3
p.F741insFs
c.2222dupT
1 paper
NM_001282531.3
p.V750I
c.2248G>A
2 papers
NM_001282531.3
p.V751fs
c.2251_2252fs
8 papers
NM_001282531.3
p.S738*
c.2213C>G
9 papers
NM_001282531.3
p.S738*
c.2213C>A
1 paper
NM_001282531.3
p.V751fs
c.2251_2252fs
1 paper
NM_001282531.3
p.V751del1
c.2251_2252delAAC
1 paper
NM_001282531.3
p.S736insFs
c.2206_2207insA
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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."