Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.L301V

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.L301V
c.901C>G
Surrounding Variants
4 papers
NM_001002295.2
p.L301Fs
c.901delinsAACCCTFs
1 paper
NM_001002295.2
p.L301ins1
c.901_902insCCT
1 paper
NM_001002295.2
p.L301fs
c.901_902fs
1 paper
NM_001002295.2
p.P300_L301insFs
c.900_901insAA
1 paper
NM_001002295.2
p.I302_P304delFs
c.904_910del7
1 paper
NM_001002295.2
p.P300L
c.899C>T
1 paper
NM_001002295.2
p.I302V
c.904A>G
1 paper
NM_001002295.2
p.P300A
c.898C>G
1 paper
NM_001002295.2
p.I302T
c.905T>C
11 papers
NM_001002295.2
p.R299Q
c.896G>A
2 papers
NM_001002295.2
p.K303*
c.907A>T
1 paper
NM_001002295.2
p.R299G
c.895C>G
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