Varaico: Literature-Extracted Genetic Variants

Gene:BHLHA9
Variant:p.H137fs

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
3 papers
NM_001164405.2
p.H137fs
c.409_410fs
Surrounding Variants
2 papers
NM_001164405.2
p.H137delFs
c.409delC
1 paper
NM_001164405.2
p.S124T
c.371G>C
1 paper
NM_001164405.2
p.A123S
c.367G>T
1 paper
NM_001164405.2
p.P153S
c.457C>T
1 paper
NM_001164405.2
p.S118F
c.353C>T
2 papers
NM_001164405.2
p.R113H
c.338G>A
1 paper
NM_001164405.2
p.R108L
c.323G>T
5 papers
NM_001164405.2
p.I104T
c.311T>C
1 paper
NM_001164405.2
p.S102Y
c.305C>A
1 paper
NM_001164405.2
p.R90P
c.269G>C
1 paper
NM_001164405.2
p.P184S
c.550C>T
5 papers
NM_001164405.2
p.F85fs
c.253_254fs
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