Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE22

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
1–12 of 52 variants
2 papers
NM_152414.5
p.G217S
c.649G>A
2 papers
NM_152414.5
p.S223_G224ins0
c.667_672dup6
2 papers
NM_152414.5
p.G225ins1
c.673_674insGCA
1 paper
NM_152414.5
p.L19P
c.56T>C
1 paper
NM_152414.5
p.A25S
c.73G>T
1 paper
NM_152414.5
p.S28A
c.82T>G
1 paper
NM_152414.5
p.L31_E32insFs
c.93_94insG
1 paper
NM_152414.5
p.P50L
c.149C>T
1 paper
NM_152414.5
p.P61T
c.181C>A
1 paper
NM_152414.5
p.E71K
c.211G>A
1 paper
NM_152414.5
p.G74_S87delFs
c.221_260del40
1 paper
NM_152414.5
p.G74fs
c.220_221fs
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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."