Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.L396F

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.L397F
c.1189C>T
Surrounding Variants
1 paper
NM_002051.3
p.L396V
c.1186C>G
1 paper
NM_001002295.2
p.S398insFs
c.1192dupT
7 papers
NM_001002295.2
p.A396T
c.1186G>A
2 papers
NM_001002295.2
p.A396fs
c.1186_1187fs
1 paper
NM_001002295.2
p.A396fs
c.1186_1187fs
2 papers
NM_001002295.2
p.S398fs
c.1192_1193fs
1 paper
NM_001002295.2
p.A396insFs
c.1186dupG
1 paper
NM_001002295.2
p.A396_S408insFs
c.1186_1222dup37
1 paper
NM_001002295.2
p.S398C
c.1193C>G
1 paper
NM_001002295.2
p.A395V
c.1184C>T
2 papers
NM_001002295.2
p.R399delFs
c.1195_1196delAG
3 papers
NM_001002295.2
p.R399fs
c.1195_1196fs
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