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

4 papers

NM_001282531.3

p.L211*

c.632T>A

Surrounding Variants

4 papers

NM_001282531.3

p.L211*

c.632T>G

1 paper

NM_001282531.3

p.G212C

c.634G>T

2 papers

NM_001282531.3

p.N214fs

c.640_641fs

1 paper

NM_001282531.3

p.N214fs

c.640_641fs

6 papers

NM_001282531.3

p.R216*

c.646C>T

1 paper

NM_001282531.3

p.R216Q

c.647G>A

3 papers

NM_001282531.3

p.N214_R216delFs

c.641_648del8

2 papers

NM_001282531.3

p.E218*

c.652G>T

1 paper

NM_001282531.3

p.N214_E217delFs

c.642_651del10

1 paper

NM_001282531.3

p.S204L

c.611C>T

3 papers

NM_001282531.3

p.K203_S204insFs

c.609_610insA

1 paper

NM_001282531.3

p.S204fs

c.610_611fs