Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.L141del1

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
2 papers
NM_001002295.2
p.L141del1
c.421_422delTTG
Surrounding Variants
2 papers
NM_001002295.2
p.L141_S147delFs
c.421_440del20
1 paper
NM_001002295.2
p.S140F
c.419C>T
2 papers
NM_001002295.2
p.L141fs
c.421_422fs
1 paper
NM_001002295.2
p.S140T
c.418T>A
1 paper
NM_001002295.2
p.S142fs
c.424_425fs
6 papers
NM_001002295.2
p.G144insFs
c.431dupG
9 papers
NM_001002295.2
p.G144delFs
c.431delG
2 papers
NM_001002295.2
p.S138F
c.413C>T
1 paper
NM_001002295.2
p.S138A
c.412T>G
1 paper
NM_001002295.2
p.S137S
c.411G>A
1 paper
NM_001002295.2
p.S140del1
c.418_419delTCC
1 paper
NM_001002295.2
p.S137*
c.410C>A
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