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.F864L

c.2592T>G

Surrounding Variants

1 paper

NM_004319.3

p.F864L

c.2592T>A

1 paper

NM_004319.3

p.F864L

c.2590T>C

2 papers

NM_004319.3

p.W871C

c.2613G>T

2 papers

NM_004319.3

p.W871C

c.2613G>C

3 papers

NM_004319.3

p.R879W

c.2635C>T

1 paper

NM_004319.3

p.R880*

c.2638C>T

1 paper

NM_004319.3

p.R880Q

c.2639G>A

1 paper

NM_004319.3

p.W882C

c.2646G>T

1 paper

NM_004319.3

p.W882C

c.2646G>C

1 paper

NM_004319.3

p.L883L

c.2647C>T

1 paper

NM_004319.3

p.D844N

c.2530G>A

1 paper

NM_004319.3

p.G838_A839del2

c.2512_2516del6