Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.E217_S219delFs

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.E217_S219delFs
c.651_655del5
Surrounding Variants
2 papers
NM_001282531.3
p.E218*
c.652G>T
1 paper
NM_001282531.3
p.N214_E217delFs
c.642_651del10
3 papers
NM_001282531.3
p.N214_R216delFs
c.641_648del8
1 paper
NM_001282531.3
p.R216Q
c.647G>A
6 papers
NM_001282531.3
p.R216*
c.646C>T
1 paper
NM_001282531.3
p.N214fs
c.640_641fs
2 papers
NM_001282531.3
p.N214fs
c.640_641fs
5 papers
NM_001282531.3
p.R225*
c.673C>T
1 paper
NM_001282531.3
p.G212C
c.634G>T
4 papers
NM_001282531.3
p.L211*
c.632T>G
4 papers
NM_001282531.3
p.L211*
c.632T>A
1 paper
NM_001282531.3
p.K231delFs
c.692delT
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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."