Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.M1022I

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.M1022I
c.3066G>C
Surrounding Variants
1 paper
NM_015570.4
p.M1022I
c.3066G>A
1 paper
NM_015570.4
p.M1022I
c.3066G>T
1 paper
NM_015570.4
p.A1020V
c.3059C>T
1 paper
NM_015570.4
p.G1027insFs
c.3080_3081ins19
1 paper
NM_015570.4
p.G1017R
c.3049G>A
1 paper
NM_015570.4
p.P1033S
c.3097C>T
1 paper
NM_015570.4
p.S1010S
c.3030C>T
1 paper
NM_015570.4
p.P1006P
c.3018G>A
1 paper
NM_015570.4
p.P1005L
c.3014C>T
2 papers
NM_015570.4
p.D1041N
c.3121G>A
1 paper
NM_015570.4
p.T1043I
c.3128C>T
1 paper
NM_015570.4
p.T1047N
c.3140C>A
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