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.T176I

c.527C>T

Surrounding Variants

1 paper

NM_004319.3

p.R179H

c.536G>A

4 papers

NM_004319.3

p.R183C

c.547C>T

1 paper

NM_004319.3

p.R183H

c.548G>A

2 papers

NM_004319.3

p.R184H

c.551G>A

1 paper

NM_004319.3

p.R185W

c.553C>T

1 paper

NM_004319.3

p.R185P

c.554G>C

1 paper

NM_004319.3

p.P187fs

c.559_560fs

2 papers

NM_004319.3

p.P187P

c.561G>C

1 paper

NM_004319.3

p.L164L

c.492G>A

1 paper

NM_004319.3

p.P187delFs

c.561delC

1 paper

NM_004319.3

p.P189L

c.566C>T

1 paper

NM_004319.3

p.L163V

c.487C>G