Varaico: Literature-Extracted Genetic Variants

ASTN1

192 papers

RefSeq Summary

Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, a...

Pfam Domains

ASTN_1_2_Naa 95–641UCSCAstrotactin 1/2 N-terminal

ASTN1_2_fn3aa 1022–1143UCSCASTN1/2 Fn3 domain

Annexin_2aa 1145–1220UCSCAnnexin-like domain

Gene Aliases

HGNC Name

astrotactin 1

HGNC Previous Name

astrotactin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004319.3

p.L745L

c.2235G>T

Surrounding Variants

3 papers

NM_004319.3

p.G742R

c.2224G>C

3 papers

NM_004319.3

p.G742R

c.2224G>A

2 papers

NM_004319.3

p.T723A

c.2167A>G

1 paper

NM_004319.3

p.L718I

c.2152C>A

1 paper

NM_004319.3

p.S715T

c.2144G>C

1 paper

NM_004319.3

p.D764E

c.2292T>G

1 paper

NM_004319.3

p.D764E

c.2292T>A

1 paper

NM_004319.3

p.E783delFs

c.2347delC

1 paper

NM_004319.3

p.E783fs

c.2347_2348fs

1 paper

NM_004319.3

p.L681F

c.2041C>T

1 paper

NM_004319.3

p.Y678H

c.2032T>C

1 paper

NM_004319.3

p.D674Y

c.2020G>T