Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.Y488*

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
3 papers
NM_015570.4
p.Y488*
c.1464C>G
Surrounding Variants
3 papers
NM_015570.4
p.Y488*
c.1464C>A
1 paper
NM_015570.4
p.Y488_S489delFs
c.1464_1467del4
1 paper
NM_015570.4
p.E490Splc
c.1468+2T>A
2 papers
NM_015570.4
p.L433P
c.1298T>C
2 papers
NM_015570.4
p.L433delFs
c.1298delT
2 papers
NM_015570.4
p.L433fs
c.1297_1298fs
1 paper
NM_015570.4
p.P432R
c.1295C>G
1 paper
NM_015570.4
p.P432L
c.1295C>T
1 paper
NM_015570.4
p.L433del1
c.1297_1298delCTC
2 papers
NM_015570.4
p.F431V
c.1291T>G
1 paper
NM_015570.4
p.H425P
c.1274A>C
1 paper
NM_015570.4
p.S409G
c.1225A>G
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