Varaico: Literature-Extracted Genetic Variants

Gene:ASCL1
Variant:p.E2K

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.E2K
c.4G>A
Surrounding Variants
1 paper
NM_004316.4
p.S4T
c.10T>A
1 paper
NM_004316.4
p.A5V
c.14C>T
1 paper
NM_004316.4
p.G13_Q15del0
c.38_43del6
3 papers
NM_004316.4
p.Q17delFs
c.50_51delAG
1 paper
NM_004316.4
p.Q17_Q19delFs
c.50_56del7
3 papers
NM_004316.4
p.P18T
c.52C>A
1 paper
NM_004316.4
p.Q19delFs
c.55_56delCA
1 paper
NM_004316.4
p.Q19*
c.55C>T
1 paper
NM_004316.4
p.P20T
c.58C>A
1 paper
NM_004316.4
p.A29A
c.87C>A
2 papers
NM_004316.4
p.A38_A43del0
c.114_128del15
1 paper
NM_004316.4
p.A38_A43del6
c.112_128del18
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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."