Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.K286delFs

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.K286delFs
c.857_858delAA
Surrounding Variants
2 papers
NM_015570.4
p.K286fs
c.856_857fs
1 paper
NM_015570.4
p.Q282H
c.846G>C
1 paper
NM_015570.4
p.Q282H
c.846G>T
2 papers
NM_015570.4
p.E291K
c.871G>A
1 paper
NM_015570.4
p.P288_I289insFs
c.864_865ins19
1 paper
NM_015570.4
p.K280delFs
c.839delA
1 paper
NM_015570.4
p.E275Q
c.823G>C
3 papers
NM_015570.4
p.Q301*
c.901C>T
1 paper
NM_015570.4
p.A303T
c.907G>A
4 papers
NM_015570.4
p.A303S
c.907G>T
1 paper
NM_015570.4
p.P309_Q310delins
c.927_928delinsAT
1 paper
NM_015570.4
p.Q310*
c.928C>T
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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."