Varaico: Literature-Extracted Genetic Variants

Gene:BHLHA9
Variant:p.I104T

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
5 papers
NM_001164405.2
p.I104T
c.311T>C
Surrounding Variants
1 paper
NM_001164405.2
p.S102Y
c.305C>A
1 paper
NM_001164405.2
p.R108L
c.323G>T
2 papers
NM_001164405.2
p.R113H
c.338G>A
1 paper
NM_001164405.2
p.S118F
c.353C>T
1 paper
NM_001164405.2
p.R90P
c.269G>C
1 paper
NM_001164405.2
p.A123S
c.367G>T
5 papers
NM_001164405.2
p.F85fs
c.253_254fs
4 papers
NM_001164405.2
p.A84_R90Fs
c.252_270delinsGCAFs
2 papers
NM_001164405.2
p.A84V
c.251C>T
1 paper
NM_001164405.2
p.S124T
c.371G>C
1 paper
NM_001164405.2
p.A84_A87ins1
c.250_261dup12
1 paper
NM_001164405.2
p.L79L
c.237A>G
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