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

1–12 of 130 variants

3 papers

NM_001352186.2

p.S747C

c.2240C>G

2 papers

NM_001352186.2

p.R26S

c.78G>T

2 papers

NM_001352186.2

p.A67V

c.200C>T

2 papers

NM_001352186.2

p.A136V

c.407C>T

2 papers

NM_001352186.2

p.N544H

c.1630A>C

2 papers

NM_001352186.2

p.A706T

c.2116G>A

1 paper

NM_001352186.2

p.Q5insFs

c.15dupG

1 paper

NM_001352186.2

p.L8L

c.24G>A

1 paper

NM_001352186.2

p.E9D

c.27A>C

1 paper

NM_001352186.2

p.A11T

c.31G>A

1 paper

NM_001352186.2

p.A17V

c.50C>T

1 paper

NM_001352186.2

p.K21T

c.62A>C