Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.P1222L

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.P1222L
c.3665C>T
Surrounding Variants
1 paper
NM_015570.4
p.R1230C
c.3688C>T
1 paper
NM_015570.4
p.S1233C
c.3698C>G
1 paper
NM_015570.4
p.P1234T
c.3700C>A
1 paper
NM_015570.4
p.R1235K
c.3704G>A
1 paper
NM_015570.4
p.L1240L
c.3718C>T
1 paper
NM_015570.4
p.P1199L
c.3596C>T
1 paper
NM_015570.4
p.R1196H
c.3587G>A
1 paper
NM_015570.4
p.P1195A
c.3583C>G
1 paper
NM_015570.4
p.H1193Y
c.3577C>T
1 paper
NM_015570.4
p.L1189P
c.3566T>C
1 paper
NM_015570.4
p.G1188E
c.3563G>A
1 paper
NM_015570.4
p.P1187P
c.3561G>A
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