Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2

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
1–12 of 284 variants
8 papers
NM_015570.4
p.T534P
c.1600A>C
6 papers
NM_015570.4
p.R316*
c.946C>T
6 papers
NM_015570.4
p.H535_T542del0
c.1603_1626del24
5 papers
NM_015570.4
p.H1133del1
c.3397_3398delCAC
4 papers
NM_015570.4
p.R117C
c.349C>T
4 papers
NM_015570.4
p.A303S
c.907G>T
4 papers
NM_015570.4
p.H535P
c.1604A>C
3 papers
NM_015570.4
p.R152*
c.454C>T
3 papers
NM_015570.4
p.Q301*
c.901C>T
3 papers
NM_015570.4
p.Y488*
c.1464C>A
3 papers
NM_015570.4
p.Y488*
c.1464C>G
3 papers
NM_015570.4
p.H535Y
c.1603C>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."