Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.L503fs

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.L503fs
c.1507_1508fs
Surrounding Variants
1 paper
NM_015570.4
p.L503insFs
c.1508dupT
1 paper
NM_015570.4
p.Q496insFs
c.1486_1487insG
1 paper
NM_015570.4
p.Q496*
c.1486C>T
2 papers
NM_015570.4
p.Q496fs
c.1486_1487fs
1 paper
NM_015570.4
p.Q496insFs
c.1486dupC
2 papers
NM_015570.4
p.R495*
c.1483C>T
1 paper
NM_015570.4
p.G511R
c.1531G>A
1 paper
NM_015570.4
p.G511R
c.1531G>C
1 paper
NM_015570.4
p.P516insFs
c.1547dupC
1 paper
NM_015570.4
p.P517fs
c.1549_1550fs
1 paper
NM_015570.4
p.P517L
c.1550C>T
2 papers
NM_015570.4
p.Q532_H533del0
c.1594_1599del6
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