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.V237delFs

c.709delC

Surrounding Variants

1 paper

NM_001282531.3

p.V237fs

c.709_710fs

2 papers

NM_001282531.3

p.H239D

c.715C>G

1 paper

NM_001282531.3

p.K231delFs

c.692delT

1 paper

NM_001282531.3

p.Y249C

c.746A>G

5 papers

NM_001282531.3

p.R225*

c.673C>T

1 paper

NM_001282531.3

p.Q250R

c.749A>G

1 paper

NM_001282531.3

p.T252fs

c.754_755fs

1 paper

NM_001282531.3

p.T252delFs

c.754_755delGT

2 papers

NM_001282531.3

p.E217_S219delFs

c.651_655del5

2 papers

NM_001282531.3

p.E218*

c.652G>T

1 paper

NM_001282531.3

p.N214_E217delFs

c.642_651del10

3 papers

NM_001282531.3

p.N214_R216delFs

c.641_648del8