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

2 papers

NM_001282531.3

p.K119R

c.356A>G

Surrounding Variants

1 paper

NM_001282531.3

p.K119*

c.355A>T

1 paper

NM_001282531.3

p.T120I

c.359C>T

5 papers

NM_001282531.3

p.L121fs

c.361_362fs

2 papers

NM_001282531.3

p.L121fs

c.361_362fs

4 papers

NM_001282531.3

p.L121delFs

c.361_362delAA

2 papers

NM_001282531.3

p.T113_F114delFs

c.337_340del4

4 papers

NM_001282531.3

p.T113delFs

c.339delG

5 papers

NM_001282531.3

p.F114fs

c.340_341fs

1 paper

NM_001282531.3

p.H124_I125delFs

c.372_373delTG

1 paper

NM_001282531.3

p.I125fs

c.373_374fs

1 paper

NM_001282531.3

p.I125delFs

c.373_374delAT

3 papers

NM_001282531.3

p.T113fs

c.337_338fs