Varaico: Literature-Extracted Genetic Variants

Gene:ANKS1B
Variant:p.N544H

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)
Ank_2aa 7–122UCSCAnkyrin repeats (3 copies)
PIDaa 92–222UCSCPhosphotyrosine interaction domain (PTB/PID)
Ank_2aa 117–189UCSCAnkyrin repeats (3 copies)
Ank_2aa 117–189UCSCAnkyrin repeats (3 copies)
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
2 papers
NM_001352186.2
p.N544H
c.1630A>C
Surrounding Variants
1 paper
NM_001352186.2
p.R529L
c.1586G>T
1 paper
NM_001352186.2
p.G573E
c.1718G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."