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

1 paper

NM_001365068.1

p.L227Q

c.680T>A

Surrounding Variants

1 paper

NM_001365068.1

p.A226S

c.676G>T

2 papers

NM_001365068.1

p.A229T

c.685G>A

1 paper

NM_001365068.1

p.A229V

c.686C>T

1 paper

NM_001365068.1

p.V225M

c.673G>A

1 paper

NM_001365068.1

p.Q230*

c.688C>T

1 paper

NM_001365068.1

p.T224I

c.671C>T

1 paper

NM_001365068.1

p.A229_R231del3

c.685_692del9

1 paper

NM_001365068.1

p.R232H

c.695G>A

4 papers

NM_001365068.1

p.L221del1

c.661_663delCAG

2 papers

NM_001365068.1

p.L221V

c.661C>G

1 paper

NM_001365068.1

p.R237C

c.709C>T

1 paper

NM_001365068.1

p.L217delFs

c.649delG