Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE22
Variant:p.G217S

BHLHE22

38 papers

RefSeq Summary

This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar prote...

Pfam Domains

HLHaa 243–297UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

basic helix-loop-helix family member e22

HGNC Previous Symbols

TNRC20; BHLHB5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152414.5
p.G217S
c.649G>A
Surrounding Variants
2 papers
NM_152414.5
p.S223_G224ins0
c.667_672dup6
1 paper
NM_152414.5
p.S223G
c.667A>G
1 paper
NM_152414.5
p.G224_G225ins1
c.672_673insAGC
1 paper
NM_152414.5
p.G225_S226del2
c.673_677del6
2 papers
NM_152414.5
p.G225ins1
c.673_674insGCA
1 paper
NM_152414.5
p.G225ins3
c.673_674ins9
1 paper
NM_152414.5
p.G225_S226del1
c.674_676delGCA
1 paper
NM_152414.5
p.G225ins1
c.674_675insGCA
1 paper
NM_152414.5
p.S226G
c.676A>G
1 paper
NM_152414.5
p.S227G
c.679A>G
1 paper
NM_152414.5
p.S228G
c.682A>G
1 paper
NM_152414.5
p.G203S
c.607G>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."