Varaico: Literature-Extracted Genetic Variants

Gene:TCF3
Variant:p.G486fs

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
2 papers
NM_003200.5
p.G486fs
c.1456_1457fs
Surrounding Variants
1 paper
NM_003200.5
p.G486E
c.1457G>A
1 paper
NM_003200.5
p.L485fs
c.1453_1454fs
1 paper
NM_003200.5
p.R487*
c.1459C>T
1 paper
NM_003200.5
p.R487G
c.1459C>G
1 paper
NM_003200.5
p.G484delFs
c.1452delC
1 paper
NM_003200.5
p.R487P
c.1460G>C
1 paper
NM_003200.5
p.T491insFs
c.1472_1473insA
2 papers
NM_003200.5
p.T491T
c.1473G>A
1 paper
NM_003200.5
p.A492T
c.1474G>A
5 papers
NM_003200.5
p.A492V
c.1475C>T
1 paper
NM_003200.5
p.A492delFs
c.1474delC
2 papers
NM_003200.5
p.G484Splc
c.1451-18A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."