Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.E180Q

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.E180Q
c.538G>C
Surrounding Variants
1 paper
NM_001002295.2
p.D179E
c.537C>A
1 paper
NM_001002295.2
p.D179E
c.537C>G
1 paper
NM_001002295.2
p.K181_E182delFs
c.543_544delAG
2 papers
NM_001002295.2
p.Q178fs
c.532_533fs
1 paper
NM_001002295.2
p.E182fs
c.544_545fs
1 paper
NM_001002295.2
p.E182*
c.544G>T
2 papers
NM_001002295.2
p.L184_P191delFs
c.551_572del22
2 papers
NM_001002295.2
p.R177W
c.529C>T
2 papers
NM_001002295.2
p.R177fs
c.529_530fs
1 paper
NM_001002295.2
p.C183G
c.547T>G
1 paper
NM_001002295.2
p.R177_K185del0
c.529_555del27
1 paper
NM_001002295.2
p.A176V
c.527C>T
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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."