Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.T544T

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
1 paper
NM_015570.4
p.T544T
c.1632G>A
Surrounding Variants
1 paper
NM_015570.4
p.H548insFs
c.1642dupC
1 paper
NM_015570.4
p.H541H
c.1623C>T
2 papers
NM_015570.4
p.T542del1
c.1624_1625delACC
1 paper
NM_015570.4
p.P551Q
c.1652C>A
1 paper
NM_015570.4
p.P551P
c.1653A>C
1 paper
NM_015570.4
p.H537Q
c.1611C>A
1 paper
NM_015570.4
p.H537Q
c.1611C>G
1 paper
NM_015570.4
p.Q536Q
c.1608G>A
1 paper
NM_015570.4
p.T553P
c.1657A>C
1 paper
NM_015570.4
p.H535Q
c.1605C>A
1 paper
NM_015570.4
p.H535Q
c.1605C>G
4 papers
NM_015570.4
p.H535P
c.1604A>C
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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."