Varaico: Literature-Extracted Genetic Variants

Gene:BHLHE22
Variant:p.G93_G94ins1

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
1 paper
NM_152414.5
p.G93_G94ins1
c.279_280insTGG
Surrounding Variants
1 paper
NM_152414.5
p.G96S
c.286G>A
1 paper
NM_152414.5
p.G91ins1
c.271_272insGGC
1 paper
NM_152414.5
p.G91ins2
c.271_272ins6
1 paper
NM_152414.5
p.G96_G97ins0
c.288_290dupCGG
1 paper
NM_152414.5
p.G99G
c.297T>A
1 paper
NM_152414.5
p.G106V
c.317G>T
1 paper
NM_152414.5
p.L77F
c.231G>C
1 paper
NM_152414.5
p.L77F
c.231G>T
1 paper
NM_152414.5
p.V110G
c.329T>G
1 paper
NM_152414.5
p.L75_L76delFs
c.225_226delGC
1 paper
NM_152414.5
p.L75M
c.223C>A
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."