Varaico: Literature-Extracted Genetic Variants

Gene:ASCL2
Variant:p.A146S

ASCL2

34 papers

RefSeq Summary

This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is ...

Pfam Domains

HLHaa 51–103UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

achaete-scute family bHLH transcription factor 2

HGNC Alias Symbols

ASH2; HASH2; bHLHa45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005170.3
p.A146S
c.436G>T
Surrounding Variants
1 paper
NM_005170.3
p.G154fs
c.460_461fs
1 paper
NM_005170.3
p.G154delFs
c.461delC
1 paper
NM_005170.3
p.T136I
c.407C>T
1 paper
NM_005170.3
p.G135E
c.404G>A
1 paper
NM_005170.3
p.E157G
c.470A>G
1 paper
NM_005170.3
p.A129E
c.386C>A
1 paper
NM_005170.3
p.Q123R
c.368A>G
1 paper
NM_005170.3
p.G171G
c.513C>T
1 paper
NM_005170.3
p.E180*
c.538G>T
1 paper
NM_005170.3
p.E180Q
c.538G>C
1 paper
NM_005170.3
p.R181C
c.541C>T
1 paper
NM_005170.3
p.W189R
c.565T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."