Varaico: Literature-Extracted Genetic Variants

ANKS1B

126 papers

RefSeq Summary

This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain d...

Pfam Domains

Ank_2aa 7–122UCSCAnkyrin repeats (3 copies)

PIDaa 92–222UCSCPhosphotyrosine interaction domain (PTB/PID)

Ank_2aa 117–189UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat and sterile alpha motif domain containing 1B

HGNC Alias Symbols

EB-1; AIDA-1; cajalin-2; ANKS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001352186.2

p.E711K

c.2131G>A

Surrounding Variants

1 paper

NM_001352186.2

p.G708A

c.2123G>C

1 paper

NM_001352186.2

p.G708R

c.2122G>C

1 paper

NM_001352186.2

p.G708R

c.2122G>A

1 paper

NM_001352186.2

p.C714_T715insFs

c.2142_2143insG

1 paper

NM_001352186.2

p.A706V

c.2117C>T

2 papers

NM_001352186.2

p.A706T

c.2116G>A

1 paper

NM_001352186.2

p.N705K

c.2115C>G

1 paper

NM_001352186.2

p.N705K

c.2115C>A

1 paper

NM_001352186.2

p.G699A

c.2096G>C

1 paper

NM_001352186.2

p.T685N

c.2054C>A

1 paper

NM_001352186.2

p.E682K

c.2044G>A

1 paper

NM_001352186.2

p.S678fs

c.2032_2033fs