Varaico: Literature-Extracted Genetic Variants

Gene:BHLHA9
Variant:p.C27insFs

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
Selected Variant
1 paper
NM_001164405.2
p.C27insFs
c.80dupG
Surrounding Variants
2 papers
NM_001164405.2
p.G25fs
c.73_74fs
3 papers
NM_001164405.2
p.G25delFs
c.74delG
1 paper
NM_001164405.2
p.A53T
c.157G>A
1 paper
NM_001164405.2
p.P60R
c.179C>G
1 paper
NM_001164405.2
p.R62_A70ins3
c.184_210dup27
1 paper
NM_001164405.2
p.R62W
c.184C>T
1 paper
NM_001164405.2
p.R67S
c.199C>A
1 paper
NM_001164405.2
p.A69T
c.205G>A
8 papers
NM_001164405.2
p.N71D
c.211A>G
8 papers
NM_001164405.2
p.R73P
c.218G>C
5 papers
NM_001164405.2
p.E74delins
c.220_221delinsTT
1 paper
NM_001164405.2
p.E74Fs
c.221delinsTTFs
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