Varaico: Literature-Extracted Genetic Variants

ASTN2

152 papers

RefSeq Summary

This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this ...

Pfam Domains

ASTN1_2_fn3aa 118–190UCSCASTN1/2 Fn3 domain

ASTN_1_2_Naa 148–692UCSCAstrotactin 1/2 N-terminal

MACPFaa 853–969UCSCMAC/Perforin domain

ASTN1_2_fn3aa 1066–1188UCSCASTN1/2 Fn3 domain

Annexin_2aa 1190–1282UCSCAnnexin-like domain

ASTN_2_hairpinaa 1286–1332UCSCAstrotactin-2 C-terminal beta-hairpin domain

Gene Aliases

HGNC Name

astrotactin 2

HGNC Alias Symbol

KIAA0634

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001365068.1

p.S257T

c.769T>A

Surrounding Variants

1 paper

NM_001365068.1

p.S257F

c.770C>T

1 paper

NM_001365068.1

p.P256L

c.767C>T

1 paper

NM_001365068.1

p.Y254H

c.760T>C

1 paper

NM_001365068.1

p.H250Q

c.750T>G

1 paper

NM_001365068.1

p.H250Q

c.750T>A

1 paper

NM_001365068.1

p.H250P

c.749A>C

1 paper

NM_001365068.1

p.A264V

c.791C>T

1 paper

NM_001365068.1

p.R265Q

c.794G>A

1 paper

NM_001365068.1

p.T246S

c.736A>T

1 paper

NM_001365068.1

p.S243S

c.729C>T

2 papers

NM_001365068.1

p.T275S

c.823A>T

1 paper

NM_001365068.1

p.R238C

c.712C>T