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.K1072*

c.3214A>T

Surrounding Variants

1 paper

NM_004319.3

p.E1062*

c.3184G>T

2 papers

NM_004319.3

p.R1060H

c.3179G>A

1 paper

NM_004319.3

p.Y1057*

c.3171C>G

1 paper

NM_004319.3

p.Y1057*

c.3171C>A

2 papers

NM_004319.3

p.Q1053_I1054delFs

c.3159_3160delTC

1 paper

NM_004319.3

p.Q1053fs

c.3157_3158fs

1 paper

NM_004319.3

p.G1051G

c.3153G>A

1 paper

NM_004319.3

p.G1051E

c.3152G>A

1 paper

NM_004319.3

p.I1050V

c.3148A>G

2 papers

NM_004319.3

p.W1043*

c.3129G>A

2 papers

NM_004319.3

p.W1043*

c.3128G>A

1 paper

NM_004319.3

p.E1042Fs

c.3125delinsGACCACAAGTGFs