Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.S412N

GATA1

885 papers

RefSeq Summary

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adul...

Pfam Domains

GATAaa 204–238UCSCGATA zinc finger
GATAaa 258–292UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 1

HGNC Previous Symbol

GF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002049.4
p.S412N
c.1235G>A
Surrounding Variants
1 paper
NM_002049.4
p.S412R
c.1234A>C
1 paper
NM_002049.4
p.S412R
c.1236C>A
1 paper
NM_002049.4
p.S412R
c.1236C>G
14 papers
NM_002049.4
p.*414R
c.1240T>A
14 papers
NM_002049.4
p.*414R
c.1240T>C
1 paper
NM_002049.4
p.V408_A409insFs
c.1224_1225insA
1 paper
NM_002049.4
p.V408_A409insFs
c.1224_1225insG
1 paper
NM_002049.4
p.V407M
c.1219G>A
1 paper
NM_002049.4
p.T403I
c.1208C>T
1 paper
NM_002049.4
p.T402fs
c.1204_1205fs
2 papers
NM_002049.4
p.T402fs
c.1204_1205fs
1 paper
NM_002049.4
p.P401R
c.1202C>G
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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."