Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.F392L

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.F392L
c.1176T>A
Surrounding Variants
1 paper
NM_001002295.2
p.F392L
c.1176T>G
1 paper
NM_001002295.2
p.N393insFs
c.1178_1179ins7
1 paper
NM_001002295.2
p.F392L
c.1174T>C
2 papers
NM_001002295.2
p.S391L
c.1172C>T
1 paper
NM_002051.3
p.P393L
c.1178C>T
1 paper
NM_001002295.2
p.S391fs
c.1171_1172fs
2 papers
NM_001002295.2
p.A395T
c.1183G>A
1 paper
NM_001002295.2
p.S390T
c.1169G>C
1 paper
NM_001002295.2
p.A395fs
c.1183_1184fs
1 paper
NM_001002295.2
p.A395S
c.1183G>T
1 paper
NM_001002295.2
p.S390fs
c.1168_1169fs
1 paper
NM_001002295.2
p.A395V
c.1184C>T
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