Varaico: Literature-Extracted Genetic Variants

Gene:NFATC2
Variant:p.Y591C

NFATC2

203 papers

RefSeq Summary

This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). Th...

Pfam Domains

RHD_DNA_bindaa 410–570UCSCRel homology DNA-binding domain
RHD_DNA_bindaa 410–570UCSCRel homology DNA-binding domain
RHD_dimeraa 579–679UCSCRel homology dimerisation domain
RHD_dimeraa 579–679UCSCRel homology dimerisation domain

Gene Aliases

HGNC Name

nuclear factor of activated T cells 2

HGNC Alias Symbols

NF-ATP; NFATp; NFAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012340.5
p.Y591C
c.1772A>G
Surrounding Variants
1 paper
NM_012340.5
p.G593S
c.1777G>A
3 papers
NM_012340.5
p.D584A
c.1751A>C
1 paper
NM_012340.5
p.Q571R
c.1712A>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."