Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.Q532_H533del0

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.Q532_H533del0
c.1594_1599del6
Surrounding Variants
1 paper
NM_015570.4
p.Q530_H533del0
c.1588_1599del12
2 papers
NM_015570.4
p.Q528_T538del0
c.1584_1613del30
1 paper
NM_015570.4
p.H529P
c.1586A>C
2 papers
NM_015570.4
p.H529Q
c.1587C>A
2 papers
NM_015570.4
p.H529Q
c.1587C>G
6 papers
NM_015570.4
p.H535_T542del0
c.1603_1626del24
1 paper
NM_015570.4
p.H531R
c.1592A>G
1 paper
NM_015570.4
p.H533Y
c.1597C>T
8 papers
NM_015570.4
p.T534P
c.1600A>C
1 paper
NM_015570.4
p.P517L
c.1550C>T
1 paper
NM_015570.4
p.P517fs
c.1549_1550fs
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."