Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.Q423fs

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.Q423fs
c.1267_1268fs
Surrounding Variants
2 papers
NM_001282531.3
p.G422insFs
c.1265dupG
1 paper
NM_001282531.3
p.S424_S425insGCA
c.1270_1274ins9
1 paper
NM_001282531.3
p.S425_S426insGCA
c.1273_1277ins9
1 paper
NM_001282531.3
p.R419delFs
c.1255delT
2 papers
NM_001282531.3
p.R419fs
c.1255_1256fs
4 papers
NM_001282531.3
p.A429insFs
c.1287dupT
2 papers
NM_001282531.3
p.A430fs
c.1288_1289fs
1 paper
NM_001282531.3
p.Q414delFs
c.1240_1241delTG
2 papers
NM_001282531.3
p.A431_A432del2
c.1291_1295del6
1 paper
NM_001282531.3
p.L412delFs
c.1235delA
2 papers
NM_001282531.3
p.L412fs
c.1234_1235fs
2 papers
NM_001282531.3
p.S409fs
c.1225_1226fs
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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."