Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.R173delFs

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.R173delFs
c.517_518delCG
Surrounding Variants
1 paper
NM_001282531.3
p.D174fs
c.520_521fs
1 paper
NM_001282531.3
p.D174insFs
c.520_521insTA
5 papers
NM_001282531.3
p.R173*
c.517C>T
1 paper
NM_001282531.3
p.D174E
c.522T>G
1 paper
NM_001282531.3
p.D174E
c.522T>A
1 paper
NM_001282531.3
p.L176V
c.526C>G
11 papers
NM_001282531.3
p.V180fs
c.538_539fs
3 papers
NM_001282531.3
p.I179insFs
c.537dupA
2 papers
NM_001282531.3
p.Y166_C167delFs
c.498_499delAG
1 paper
NM_001282531.3
p.V180G
c.539T>G
3 papers
NM_001282531.3
p.V180fs
c.538_539fs
2 papers
NM_001282531.3
p.Y166*
c.498C>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."