Varaico: Literature-Extracted Genetic Variants

Gene:TCF3
Variant:p.L221V

TCF3

948 papers

RefSeq Summary

This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as he...

Pfam Domains

HLHaa 550–603UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

transcription factor 3

HGNC Alias Symbols

E2A; ITF1; MGC129647; MGC129648; bHLHb21; VDIR; E47; p75

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003200.5
p.L221V
c.661C>G
Surrounding Variants
1 paper
NM_003200.5
p.S220N
c.659G>A
1 paper
NM_003200.5
p.S220G
c.658A>G
1 paper
NM_003200.5
p.G219fs
c.655_656fs
1 paper
NM_003200.5
p.G219delFs
c.656delC
2 papers
NM_003200.5
p.H222R
c.665A>G
1 paper
NM_003200.5
p.G219A
c.656G>C
1 paper
NM_003200.5
p.S220_P223delFs
c.659_668del10
1 paper
NM_003200.5
p.D218G
c.653A>G
1 paper
NM_003200.5
p.S224A
c.670T>G
1 paper
NM_003200.5
p.H222delFs
c.666delG
1 paper
NM_003200.5
p.D218Y
c.652G>T
1 paper
NM_003200.5
p.E226Q
c.676G>C
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