Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.V982V

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.V982V
c.2946G>A
Surrounding Variants
2 papers
NM_015570.4
p.K983_E984del2
c.2947_2951del6
1 paper
NM_015570.4
p.K981K
c.2943G>A
1 paper
NM_015570.4
p.R986W
c.2956C>T
1 paper
NM_015570.4
p.D991A
c.2972A>C
2 papers
NM_015570.4
p.A970T
c.2908G>A
1 paper
NM_015570.4
p.P969S
c.2905C>T
1 paper
NM_015570.4
p.P1005L
c.3014C>T
1 paper
NM_015570.4
p.P1006P
c.3018G>A
1 paper
NM_015570.4
p.T957_S958insTG
c.2869_2873ins6
1 paper
NM_015570.4
p.S1010S
c.3030C>T
1 paper
NM_015570.4
p.G1017R
c.3049G>A
1 paper
NM_015570.4
p.R945W
c.2833C>T
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