Varaico: Literature-Extracted Genetic Variants

Gene:ASCL1
Variant:p.E127K

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
3 papers
NM_004316.4
p.E127K
c.379G>A
Surrounding Variants
1 paper
NM_004316.4
p.R128S
c.382C>A
1 paper
NM_004316.4
p.N129T
c.386A>C
1 paper
NM_004316.4
p.E125_V131del7
c.373_392del21
1 paper
NM_004316.4
p.K132E
c.394A>G
1 paper
NM_004316.4
p.R122S
c.364C>A
1 paper
NM_004316.4
p.V120M
c.358G>A
1 paper
NM_004316.4
p.N135_L136insC
c.403_407ins3
1 paper
NM_004316.4
p.P117L
c.350C>T
2 papers
NM_004316.4
p.Q114_R128del15
c.340_383del45
1 paper
NM_004316.4
p.S111N
c.332G>A
6 papers
NM_004316.4
p.A149_A150insGCA
c.445_449ins9
3 papers
NM_004316.4
p.A149_A150ins9
c.445_449ins27
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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."