Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.H165Q

GATA2

1,162 papers

RefSeq Summary

This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded p...

Pfam Domains

GATAaa 295–329UCSCGATA zinc finger
GATAaa 349–383UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 2

HGNC Alias Symbol

NFE1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032638.5
p.H165Q
c.495C>A
Surrounding Variants
1 paper
NM_032638.5
p.H165Q
c.495C>G
2 papers
NM_032638.5
p.H165L
c.494A>T
3 papers
NM_032638.5
p.H165R
c.494A>G
1 paper
NM_032638.5
p.H165Y
c.493C>T
1 paper
NM_032638.5
p.S166C
c.497C>G
1 paper
NM_032638.5
p.A164_H165insFs
c.492_493ins4
1 paper
NM_032638.5
p.G167R
c.499G>C
2 papers
NM_032638.5
p.G167S
c.499G>A
1 paper
NM_032638.5
p.A164V
c.491C>T
1 paper
NM_032638.5
p.A164D
c.491C>A
1 paper
NM_032638.5
p.G167fs
c.499_500fs
46 papers
NM_032638.5
p.A164T
c.490G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."