Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.D151G

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.D151G
c.452A>G
Surrounding Variants
3 papers
NM_015570.4
p.R152*
c.454C>T
1 paper
NM_015570.4
p.R156H
c.467G>A
1 paper
NM_015570.4
p.R156R
c.468C>A
1 paper
NM_015570.4
p.S143I
c.428G>T
1 paper
NM_015570.4
p.C159*
c.477C>A
1 paper
NM_015570.4
p.Q160*
c.478C>T
1 paper
NM_015570.4
p.K139_S140delFs
c.416_419del4
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.S137delFs
c.410delC
1 paper
NM_015570.4
p.T130T
c.390C>T
1 paper
NM_015570.4
p.L129V
c.385C>G
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