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.V268F

c.802G>T

Surrounding Variants

1 paper

NM_004319.3

p.T269M

c.806C>T

1 paper

NM_004319.3

p.S266R

c.798C>G

1 paper

NM_004319.3

p.S266R

c.798C>A

1 paper

NM_004319.3

p.R270C

c.808C>T

1 paper

NM_004319.3

p.S266R

c.796A>C

1 paper

NM_004319.3

p.G260R

c.778G>C

1 paper

NM_004319.3

p.G260R

c.778G>A

1 paper

NM_004319.3

p.G277C

c.829G>T

1 paper

NM_004319.3

p.M258V

c.772A>G

1 paper

NM_004319.3

p.C278Y

c.833G>A

1 paper

NM_004319.3

p.E280delFs

c.838_839delTC

1 paper

NM_004319.3

p.R250H

c.749G>A