Varaico: Literature-Extracted Genetic Variants

Gene:ASCL1
Variant:p.G76W

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.G76W
c.226G>T
Surrounding Variants
1 paper
NM_004316.4
p.D71H
c.211G>C
1 paper
NM_004316.4
p.A69E
c.206C>A
1 paper
NM_004316.4
p.P64L
c.191C>T
1 paper
NM_004316.4
p.A63A
c.189G>C
1 paper
NM_004316.4
p.Q62L
c.185A>T
1 paper
NM_004316.4
p.R90L
c.269G>T
1 paper
NM_004316.4
p.S91A
c.271T>G
1 paper
NM_004316.4
p.Q60ins1
c.178_179insTAG
1 paper
NM_004316.4
p.S92F
c.275C>T
1 paper
NM_004316.4
p.S93L
c.278C>T
10 papers
NM_004316.4
p.A50ins1
c.149_150insGCA
5 papers
NM_004316.4
p.A50ins3
c.149_150ins9
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