Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.F85L

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.F85L
c.255C>G
Surrounding Variants
2 papers
NM_001282531.3
p.F85L
c.255C>A
2 papers
NM_001282531.3
p.F85L
c.253T>C
1 paper
NM_001282531.3
p.S83*
c.248C>G
1 paper
NM_001282531.3
p.S83*
c.248C>A
1 paper
NM_001282531.3
p.P80fs
c.238_239fs
1 paper
NM_001282531.3
p.A78T
c.232G>A
1 paper
NM_001282531.3
p.N95_V96insT
c.283_287ins3
2 papers
NM_001282531.3
p.V96fs
c.286_287fs
3 papers
NM_001282531.3
p.V96delFs
c.287delA
1 paper
NM_001282531.3
p.R70Q
c.209G>A
1 paper
NM_001282531.3
p.R70W
c.208C>T
1 paper
NM_001282531.3
p.N103H
c.307A>C
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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."