Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.T252delFs

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.T252delFs
c.754_755delGT
Surrounding Variants
1 paper
NM_001282531.3
p.T252fs
c.754_755fs
1 paper
NM_001282531.3
p.Q250R
c.749A>G
1 paper
NM_001282531.3
p.Y249C
c.746A>G
1 paper
NM_001282531.3
p.V262F
c.784G>T
7 papers
NM_001282531.3
p.R264*
c.790C>T
2 papers
NM_001282531.3
p.H239D
c.715C>G
1 paper
NM_001282531.3
p.P267S
c.799C>T
1 paper
NM_001282531.3
p.V237delFs
c.709delC
1 paper
NM_001282531.3
p.V237fs
c.709_710fs
1 paper
NM_001282531.3
p.K231delFs
c.692delT
1 paper
NM_001282531.3
p.P273_K274insFs
c.819_820insT
1 paper
NM_001282531.3
p.K274*
c.820A>T
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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."