Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.H851Y

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.H851Y
c.2551C>T
Surrounding Variants
1 paper
NM_015570.4
p.H851Q
c.2553C>A
1 paper
NM_015570.4
p.H851Q
c.2553C>G
1 paper
NM_015570.4
p.R850K
c.2549G>A
1 paper
NM_015570.4
p.S853R
c.2557A>C
1 paper
NM_015570.4
p.S853R
c.2559C>A
1 paper
NM_015570.4
p.S853R
c.2559C>G
1 paper
NM_015570.4
p.E886G
c.2657A>G
1 paper
NM_015570.4
p.E931K
c.2791G>A
1 paper
NM_015570.4
p.R938W
c.2812C>T
1 paper
NM_015570.4
p.R945W
c.2833C>T
1 paper
NM_015570.4
p.T957_S958insTG
c.2869_2873ins6
1 paper
NM_015570.4
p.P969S
c.2905C>T
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