Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.I351fs

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.I351fs
c.1051_1052fs
Surrounding Variants
1 paper
NM_001002295.2
p.I351fs
c.1051_1052fs
2 papers
NM_002051.3
p.N349_I350Splc
c.1048-1G>C
NM_001002295.2
p.N350_I351Splc
c.1051-1G>C
7 papers
NM_001002295.2
p.N350_I351Splc
c.1051-1G>T
1 paper
NM_001002295.2
p.I351S
c.1052T>G
5 papers
NM_001002295.2
p.N350_I351Splc
c.1051-2A>G
1 paper
NM_001002295.2
p.N352_R353delFs
c.1054_1057del4
4 papers
NM_001002295.2
p.N352fs
c.1054_1055fs
1 paper
NM_001002295.2
p.N352D
c.1054A>G
2 papers
NM_001002295.2
p.N352Y
c.1054A>T
1 paper
NM_001002295.2
p.N352delFs
c.1055_1056delAC
1 paper
NM_001002295.2
p.N352K
c.1056C>A
1 paper
NM_001002295.2
p.N352K
c.1056C>G
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