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.S56L

c.167C>T

Surrounding Variants

1 paper

NM_001365068.1

p.E58G

c.173A>G

1 paper

NM_001365068.1

p.A54T

c.160G>A

1 paper

NM_001365068.1

p.D60_S61insAGC

c.178_182ins9

1 paper

NM_001365068.1

p.S61N

c.182G>A

1 paper

NM_001365068.1

p.R64W

c.190C>T

1 paper

NM_001365068.1

p.P46L

c.137C>T

1 paper

NM_001365068.1

p.L39R

c.116T>G

3 papers

NM_001365068.1

p.P74delFs

c.221delG

1 paper

NM_001365068.1

p.R77del1

c.229_230delCCG

2 papers

NM_001365068.1

p.L34L

c.100C>T

1 paper

NM_001365068.1

p.P29R

c.86C>G

1 paper

NM_001365068.1

p.S84N

c.251G>A