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.V222L

c.664G>T

Surrounding Variants

1 paper

NM_004319.3

p.V222L

c.664G>C

1 paper

NM_004319.3

p.L217L

c.649C>T

1 paper

NM_004319.3

p.S227C

c.680C>G

1 paper

NM_004319.3

p.R214fs

c.640_641fs

1 paper

NM_004319.3

p.R214W

c.640C>T

1 paper

NM_004319.3

p.G213delFs

c.639delT

1 paper

NM_004319.3

p.L231M

c.691C>A

1 paper

NM_004319.3

p.H212H

c.636C>T

1 paper

NM_004319.3

p.I233T

c.698T>C

1 paper

NM_004319.3

p.Y203N

c.607T>A

1 paper

NM_004319.3

p.I201V

c.601A>G

1 paper

NM_004319.3

p.E200G

c.599A>G