Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.Q343*

AUTS2

242 papers

RefSeq Summary

This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mu...

Pfam Domains

Auts2aa 652–857UCSCAutism susceptibility gene 2 protein

Gene Aliases

HGNC Name

activator of transcription and developmental regulator AUTS2

HGNC Alias Symbols

KIAA0442; FBRSL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015570.4
p.Q343*
c.1027C>T
Surrounding Variants
1 paper
NM_015570.4
p.P335delFs
c.1005delA
1 paper
NM_015570.4
p.P334L
c.1001C>T
1 paper
NM_015570.4
p.P354L
c.1061C>T
2 papers
NM_015570.4
p.T328fs
c.982_983fs
2 papers
NM_015570.4
p.T328delFs
c.983_984delCA
1 paper
NM_015570.4
p.R327C
c.979C>T
2 papers
NM_015570.4
p.Q326*
c.976C>T
1 paper
NM_015570.4
p.R360R
c.1080G>A
1 paper
NM_015570.4
p.V325L
c.973G>C
1 paper
NM_015570.4
p.V325L
c.973G>T
1 paper
NM_015570.4
p.P320fs
c.958_959fs
1 paper
NM_015570.4
p.P320insFs
c.958_959insTG
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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."