Varaico: Literature-Extracted Genetic Variants

Gene:ASCL1
Variant:p.A45_A46insFs

ASCL1

116 papers

RefSeq Summary

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

Pfam Domains

HLHaa 119–171UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

achaete-scute family bHLH transcription factor 1

HGNC Alias Symbols

ASH1; HASH1; bHLHa46

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004316.4
p.A45_A46insFs
c.135_136insC
Surrounding Variants
1 paper
NM_004316.4
p.A46fs
c.136_137fs
1 paper
NM_004316.4
p.A42fs
c.124_125fs
1 paper
NM_004316.4
p.A42_A44delFs
c.125_131del7
1 paper
NM_004316.4
p.A43del1
c.127_128delGCC
3 papers
NM_004316.4
p.A50_Q51del2
c.148_152del6
1 paper
NM_004316.4
p.A50_Q56del7
c.148_167del21
10 papers
NM_004316.4
p.A50ins1
c.149_150insGCA
5 papers
NM_004316.4
p.A50ins3
c.149_150ins9
1 paper
NM_004316.4
p.Q58_Q62ins1
c.172_186dup15
8 papers
NM_004316.4
p.A50_Q51del1
c.150_152delGCA
1 paper
NM_004316.4
p.Q55_Q56del2
c.163_167del6
1 paper
NM_004316.4
p.A50_Q56del0
c.150_167del18
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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."