Varaico: Literature-Extracted Genetic Variants

Gene:ASCL1
Variant:p.A38_A43del0

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
2 papers
NM_004316.4
p.A38_A43del0
c.114_128del15
Surrounding Variants
1 paper
NM_004316.4
p.A38_A43del6
c.112_128del18
1 paper
NM_004316.4
p.A38del1
c.112_113delGCG
1 paper
NM_004316.4
p.A29A
c.87C>A
1 paper
NM_004316.4
p.A40delFs
c.120delC
1 paper
NM_004316.4
p.A40G
c.119C>G
2 papers
NM_004316.4
p.A41del1
c.121_122delGCA
1 paper
NM_004316.4
p.A41fs
c.121_122fs
3 papers
NM_004316.4
p.A41S
c.121G>T
1 paper
NM_004316.4
p.A43del1
c.127_128delGCC
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.A45_A46insFs
c.135_136insC
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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."