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.P602T

c.1804C>A

Surrounding Variants

1 paper

NM_001352186.2

p.P597S

c.1789C>T

1 paper

NM_001352186.2

p.P596T

c.1786C>A

1 paper

NM_001352186.2

p.D592Y

c.1774G>T

1 paper

NM_001352186.2

p.P614T

c.1840C>A

1 paper

NM_001352186.2

p.D587Y

c.1759G>T

1 paper

NM_001352186.2

p.H624Y

c.1870C>T

1 paper

NM_001352186.2

p.L625F

c.1873C>T

1 paper

NM_001352186.2

p.E630*

c.1888G>T

1 paper

NM_001352186.2

p.S644R

c.1930A>C

1 paper

NM_001352186.2

p.S644R

c.1932T>G

1 paper

NM_001352186.2

p.S644R

c.1932T>A

1 paper

NM_001352186.2

p.I673F

c.2017A>T