Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.E384D

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.E384D
c.1152G>C
Surrounding Variants
1 paper
NM_001002295.2
p.E384D
c.1152G>T
1 paper
NM_001002295.2
p.F386delFs
c.1157delT
1 paper
NM_001002295.2
p.L383L
c.1149G>T
2 papers
NM_001002295.2
p.F386fs
c.1156_1157fs
1 paper
NM_001002295.2
p.L383fs
c.1147_1148fs
1 paper
NM_001002295.2
p.P387delFs
c.1161delC
1 paper
NM_001002295.2
p.S382L
c.1145C>T
1 paper
NM_001002295.2
p.P387R
c.1160C>G
5 papers
NM_001002295.2
p.K388fs
c.1162_1163fs
1 paper
NM_001002295.2
p.K388_A396delFs
c.1164_1186del23
1 paper
NM_001002295.2
p.D381N
c.1141G>A
1 paper
NM_001002295.2
p.H380Q
c.1140T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."