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.N330_N331insC

c.988_992ins3

Surrounding Variants

1 paper

NM_001282531.3

p.Q329H

c.987G>T

1 paper

NM_001282531.3

p.Q329H

c.987G>C

1 paper

NM_001282531.3

p.Q329*

c.985C>T

2 papers

NM_001282531.3

p.V334_K335insA

c.1000_1004ins3

1 paper

NM_001282531.3

p.V337_G338insFs

c.1011_1012ins5

1 paper

NM_001282531.3

p.G338fs

c.1012_1013fs

2 papers

NM_001282531.3

p.V337_G340del4

c.1009_1019del12

3 papers

NM_001282531.3

p.S342insFs

c.1026dupT

1 paper

NM_001282531.3

p.V343fs

c.1027_1028fs

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.Q345*

c.1033C>T