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

1–12 of 160 variants

5 papers

NM_001365068.1

p.D298H

c.892G>C

4 papers

NM_001365068.1

p.L221del1

c.661_663delCAG

3 papers

NM_001365068.1

p.P74delFs

c.221delG

3 papers

NM_001365068.1

p.A102_A103del1

c.306_308delGCG

3 papers

NM_001365068.1

p.G661_T663del3

c.1981_1988del9

2 papers

NM_001365068.1

p.L34L

c.100C>T

2 papers

NM_001365068.1

p.A103del1

c.307_308delCGC

2 papers

NM_001365068.1

p.L221V

c.661C>G

2 papers

NM_001365068.1

p.A229T

c.685G>A

2 papers

NM_001365068.1

p.S257T

c.769T>A

2 papers

NM_001365068.1

p.T275S

c.823A>T

2 papers

NM_001365068.1

p.N306_V308del3

c.916_923del9