Varaico: Literature-Extracted Genetic Variants

Gene:ASCL1
Variant:p.E176K

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.E176K
c.526G>A
Surrounding Variants
1 paper
NM_004316.4
p.E176Q
c.526G>C
1 paper
NM_004316.4
p.D178_A179insTAG
c.532_536ins9
1 paper
NM_004316.4
p.A179V
c.536C>T
1 paper
NM_004316.4
p.S181S
c.543C>T
1 paper
NM_004316.4
p.A169T
c.505G>A
1 paper
NM_004316.4
p.F184_A186del3
c.550_557del9
1 paper
NM_004316.4
p.I167_R168insGCA
c.499_503ins9
1 paper
NM_004316.4
p.A186_G187ins9
c.556_560ins27
1 paper
NM_004316.4
p.E165K
c.493G>A
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.P191delFs
c.573delC
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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."