Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.R312_T316delFs

GATA3

1,055 papers

RefSeq Summary

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an ...

Pfam Domains

GATAaa 263–297UCSCGATA zinc finger
GATAaa 317–351UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 3

HGNC Alias Symbol

HDR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001002295.2
p.R312_T316delFs
c.934_946del13
Surrounding Variants
1 paper
NM_001002295.2
p.R312_T316del5
c.934_947del15
1 paper
NM_001002295.2
p.R312fs
c.934_935fs
1 paper
NM_001002295.2
p.A311T
c.931G>A
1 paper
NM_001002295.2
p.R312K
c.935G>A
1 paper
NM_001002295.2
p.A311delFs
c.933delC
1 paper
NM_001002295.2
p.R313_S317del5
c.937_950del15
1 paper
NM_001002295.2
p.R313_T326del14
c.937_977del42
1 paper
NM_001002295.2
p.R313*
c.937A>T
1 paper
NM_001002295.2
p.A310V
c.929C>T
1 paper
NM_001002295.2
p.A310fs
c.928_929fs
2 papers
NM_001002295.2
p.A314fs
c.940_941fs
1 paper
NM_001002295.2
p.S309fs
c.925_926fs
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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."