Varaico: Literature-Extracted Genetic Variants

Gene:BHLHA9

BHLHA9

34 papers

RefSeq Summary

This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synos...

Pfam Domains

HLHaa 66–118UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

basic helix-loop-helix family member a9

HGNC Alias Symbol

BHLHF42

Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
8 papers
NM_001164405.2
p.N71D
c.211A>G
8 papers
NM_001164405.2
p.R73P
c.218G>C
8 papers
NM_001164405.2
p.R75L
c.224G>T
5 papers
NM_001164405.2
p.E74delins
c.220_221delinsTT
5 papers
NM_001164405.2
p.F85fs
c.253_254fs
5 papers
NM_001164405.2
p.I104T
c.311T>C
4 papers
NM_001164405.2
p.A84_R90Fs
c.252_270delinsGCAFs
3 papers
NM_001164405.2
p.G25delFs
c.74delG
3 papers
NM_001164405.2
p.H137fs
c.409_410fs
2 papers
NM_001164405.2
p.G25fs
c.73_74fs
2 papers
NM_001164405.2
p.A84V
c.251C>T
2 papers
NM_001164405.2
p.R113H
c.338G>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."