Varaico: Literature-Extracted Genetic Variants

Gene:TCF3
Variant:p.S244L

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.S244L
c.731C>T
Surrounding Variants
1 paper
NM_003200.5
p.G243delFs
c.729delG
1 paper
NM_003200.5
p.G243fs
c.727_728fs
1 paper
NM_003200.5
p.G242V
c.725G>T
1 paper
NM_003200.5
p.P246L
c.737C>T
1 paper
NM_003200.5
p.G242W
c.724G>T
1 paper
NM_003200.5
p.G242R
c.724G>C
1 paper
NM_003200.5
p.G242R
c.724G>A
2 papers
NM_003200.5
p.P248L
c.743C>T
1 paper
NM_003200.5
p.P248P
c.744C>T
1 paper
NM_003200.5
p.P250L
c.749C>T
1 paper
NM_003200.5
p.P251P
c.753C>T
1 paper
NM_003200.5
p.G252S
c.754G>A
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