Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.K126insFs

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.K126insFs
c.376_377insT
Surrounding Variants
1 paper
NM_001282531.3
p.K126fs
c.376_377fs
1 paper
NM_001282531.3
p.I125fs
c.373_374fs
1 paper
NM_001282531.3
p.I125delFs
c.373_374delAT
1 paper
NM_001282531.3
p.H124_I125delFs
c.372_373delTG
1 paper
NM_001282531.3
p.I127fs
c.379_380fs
2 papers
NM_001282531.3
p.H124_I127del0
c.370_381del12
1 paper
NM_001282531.3
p.I127_F128delFs
c.380_384del5
2 papers
NM_001282531.3
p.L121fs
c.361_362fs
4 papers
NM_001282531.3
p.L121delFs
c.361_362delAA
5 papers
NM_001282531.3
p.L121fs
c.361_362fs
1 paper
NM_001282531.3
p.T120I
c.359C>T
2 papers
NM_001282531.3
p.K119R
c.356A>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."