Varaico: Literature-Extracted Genetic Variants

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.L307H

c.920T>A

Surrounding Variants

1 paper

NM_001282531.3

p.R306*

c.916C>T

1 paper

NM_001282531.3

p.N315fs

c.943_944fs

1 paper

NM_001282531.3

p.N315delFs

c.944delT

1 paper

NM_001282531.3

p.L298*

c.893T>G

1 paper

NM_001282531.3

p.L298*

c.893T>A

1 paper

NM_001282531.3

p.V295delFs

c.885delG

1 paper

NM_001282531.3

p.R296fs

c.886_887fs

2 papers

NM_001282531.3

p.I287_G288insFs

c.859_862dup4

2 papers

NM_001282531.3

p.G288fs

c.862_863fs

2 papers

NM_001282531.3

p.P285_R286delFs

c.853_857del5

1 paper

NM_001282531.3

p.Q329*

c.985C>T

1 paper

NM_001282531.3

p.Q329H

c.987G>T