Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE23
Variant:p.R48del1

BHLHE23

15 papers

RefSeq Summary

This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets se...

Pfam Domains

HLHaa 117–171UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

basic helix-loop-helix family member e23

HGNC Previous Symbol

BHLHB4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080606.4
p.R48del1
c.142_143delTCG
Surrounding Variants
1 paper
NM_080606.4
p.R48delFs
c.142_143delCG
1 paper
NM_080606.4
p.P61S
c.181C>T
1 paper
NM_080606.4
p.A67V
c.200C>T
1 paper
NM_080606.4
p.A78E
c.233C>A
1 paper
NM_080606.4
p.A16delFs
c.48delG
1 paper
NM_080606.4
p.P111_R112insP
c.331_335ins3
1 paper
NM_080606.4
p.R112ins1
c.334_335insCGC
1 paper
NM_080606.4
p.L139M
c.415C>A
1 paper
NM_080606.4
p.I143V
c.427A>G
1 paper
NM_080606.4
p.V142_I143del2
c.424_428del6
1 paper
NM_080606.4
p.A146V
c.437C>T
1 paper
NM_080606.4
p.R152C
c.454C>T
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