Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.K378R

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.K378R
c.1133A>G
Surrounding Variants
1 paper
NM_001002295.2
p.K377N
c.1131A>C
4 papers
NM_001002295.2
p.V379fs
c.1135_1136fs
1 paper
NM_001002295.2
p.V379_E384delFs
c.1136_1151del16
1 paper
NM_001002295.2
p.K377R
c.1130A>G
1 paper
NM_001002295.2
p.K377fs
c.1129_1130fs
1 paper
NM_001002295.2
p.K377insFs
c.1129_1130insT
1 paper
NM_001002295.2
p.K377Q
c.1129A>C
1 paper
NM_001002295.2
p.V379V
c.1137G>A
2 papers
NM_001002295.2
p.H380_D381del2
c.1138_1142del6
4 papers
NM_001002295.2
p.C376*
c.1128C>A
2 papers
NM_001002295.2
p.C376_K377insFs
c.1128_1129insA
1 paper
NM_001002295.2
p.H380Y
c.1138C>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."