Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.H1133del1

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
5 papers
NM_015570.4
p.H1133del1
c.3397_3398delCAC
Surrounding Variants
1 paper
NM_015570.4
p.H1129Y
c.3385C>T
1 paper
NM_015570.4
p.H1129P
c.3386A>C
1 paper
NM_015570.4
p.R1119W
c.3355C>T
1 paper
NM_015570.4
p.H1133ins1
c.3398_3399insGCA
1 paper
NM_015570.4
p.Y1110ins1
c.3328_3329insACC
1 paper
NM_015570.4
p.G1146_E1153del0
c.3437_3457del21
1 paper
NM_015570.4
p.G1146V
c.3437G>T
1 paper
NM_015570.4
p.L1101_H1102ins0
c.3303_3305dupCCA
1 paper
NM_015570.4
p.E1151K
c.3451G>A
1 paper
NM_015570.4
p.L1095L
c.3283C>T
1 paper
NM_015570.4
p.T1165S
c.3493A>T
1 paper
NM_015570.4
p.D1176A
c.3527A>C
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