Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.T534P

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
8 papers
NM_015570.4
p.T534P
c.1600A>C
Surrounding Variants
3 papers
NM_015570.4
p.H535Y
c.1603C>T
1 paper
NM_015570.4
p.H533Y
c.1597C>T
4 papers
NM_015570.4
p.H535P
c.1604A>C
1 paper
NM_015570.4
p.H535Q
c.1605C>A
1 paper
NM_015570.4
p.H535Q
c.1605C>G
1 paper
NM_015570.4
p.H531R
c.1592A>G
1 paper
NM_015570.4
p.Q536Q
c.1608G>A
6 papers
NM_015570.4
p.H535_T542del0
c.1603_1626del24
1 paper
NM_015570.4
p.H537Q
c.1611C>A
1 paper
NM_015570.4
p.H537Q
c.1611C>G
2 papers
NM_015570.4
p.H529Q
c.1587C>A
2 papers
NM_015570.4
p.H529Q
c.1587C>G
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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."