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

1–12 of 289 variants

6 papers

NM_004319.3

p.H924R

c.2771A>G

6 papers

NM_004319.3

p.H934Q

c.2802C>G

6 papers

NM_004319.3

p.H934Q

c.2802C>A

5 papers

NM_004319.3

p.M1095L

c.3283A>T

5 papers

NM_004319.3

p.M1095L

c.3283A>C

4 papers

NM_004319.3

p.R183C

c.547C>T

3 papers

NM_004319.3

p.G742R

c.2224G>C

3 papers

NM_004319.3

p.G742R

c.2224G>A

3 papers

NM_004319.3

p.R879W

c.2635C>T

3 papers

NM_004319.3

p.R1112*

c.3334C>T

3 papers

NM_004319.3

p.R1273S

c.3819G>T

3 papers

NM_004319.3

p.R1273S

c.3819G>C