Varaico: Literature-Extracted Genetic Variants

Gene:TCF3
Variant:p.L120M

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.L120M
c.358C>A
Surrounding Variants
2 papers
NM_003200.5
p.L120P
c.359T>C
1 paper
NM_003200.5
p.G118R
c.352G>C
1 paper
NM_003200.5
p.G118S
c.352G>A
1 paper
NM_003200.5
p.G116_Q122delFs
c.348_364del17
1 paper
NM_003200.5
p.V117A
c.350T>C
1 paper
NM_003200.5
p.Q122_A123Splc
c.366+1G>T
3 papers
NM_003200.5
p.V117M
c.349G>A
1 paper
NM_003200.5
p.G116R
c.346G>C
1 paper
NM_003200.5
p.A109_D114delFs
c.326_342del17
1 paper
NM_003200.5
p.D114V
c.341A>T
1 paper
NM_003200.5
p.D114Y
c.340G>T
1 paper
NM_003200.5
p.G112R
c.334G>C
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