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.I1107M

c.3321C>G

Surrounding Variants

1 paper

NM_004319.3

p.I1107V

c.3319A>G

1 paper

NM_004319.3

p.T1105T

c.3315C>G

3 papers

NM_004319.3

p.R1112*

c.3334C>T

1 paper

NM_004319.3

p.L1114L

c.3342G>T

1 paper

NM_004319.3

p.P1100P

c.3300G>A

1 paper

NM_004319.3

p.E1115K

c.3343G>A

5 papers

NM_004319.3

p.M1095L

c.3283A>T

5 papers

NM_004319.3

p.M1095L

c.3283A>C

2 papers

NM_004319.3

p.D1084N

c.3250G>A

1 paper

NM_004319.3

p.D1083D

c.3249C>T

1 paper

NM_004319.3

p.T1077I

c.3230C>T

1 paper

NM_004319.3

p.K1072*

c.3214A>T