Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.T130T

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.T130T
c.390C>T
Surrounding Variants
1 paper
NM_015570.4
p.L129V
c.385C>G
1 paper
NM_015570.4
p.A128G
c.383C>G
1 paper
NM_015570.4
p.A128fs
c.382_383fs
1 paper
NM_015570.4
p.E127insFs
c.380dupA
2 papers
NM_015570.4
p.R126*
c.376C>T
1 paper
NM_015570.4
p.K125T
c.374A>C
1 paper
NM_015570.4
p.S137delFs
c.410delC
1 paper
NM_015570.4
p.S137*
c.410C>A
1 paper
NM_015570.4
p.S137*
c.410C>G
1 paper
NM_015570.4
p.K139_S140delFs
c.416_419del4
1 paper
NM_015570.4
p.T119_L121insFs
c.357_361dup5
1 paper
NM_015570.4
p.S143I
c.428G>T
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