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.P154L

c.461C>T

Surrounding Variants

1 paper

NM_001352186.2

p.E162D

c.486A>T

1 paper

NM_001352186.2

p.T163insFs

c.487_488insT

1 paper

NM_001352186.2

p.P164L

c.491C>T

2 papers

NM_001352186.2

p.A136V

c.407C>T

1 paper

NM_001352186.2

p.R173W

c.517C>T

1 paper

NM_001352186.2

p.L132insFs

c.394_395insTA

1 paper

NM_001352186.2

p.A131A

c.393C>A

1 paper

NM_001352186.2

p.K178R

c.533A>G

1 paper

NM_001352186.2

p.E129K

c.385G>A

1 paper

NM_001352186.2

p.N128K

c.384T>G

1 paper

NM_001352186.2

p.N128K

c.384T>A

1 paper

NM_001352186.2

p.N125N

c.375C>T