Varaico: Literature-Extracted Genetic Variants

Gene:ASCL1
Variant:p.K153N

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.K153N
c.459G>C
Surrounding Variants
1 paper
NM_004316.4
p.K153N
c.459G>T
1 paper
NM_004316.4
p.S155_K156ins9
c.463_467ins27
1 paper
NM_004316.4
p.A149V
c.446C>T
3 papers
NM_004316.4
p.A150_K152del3
c.448_455del9
6 papers
NM_004316.4
p.A149_A150insGCA
c.445_449ins9
3 papers
NM_004316.4
p.A149_A150ins9
c.445_449ins27
1 paper
NM_004316.4
p.T159S
c.475A>T
1 paper
NM_004316.4
p.V164I
c.490G>A
1 paper
NM_004316.4
p.E165_I167del3
c.493_500del9
1 paper
NM_004316.4
p.E165K
c.493G>A
1 paper
NM_004316.4
p.I167_R168insGCA
c.499_503ins9
1 paper
NM_004316.4
p.A169T
c.505G>A
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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."