Varaico: Literature-Extracted Genetic Variants

NFATC1

227 papers

RefSeq Summary

The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic componen...

Pfam Domains

RHD_DNA_bindaa 1–116UCSCRel homology DNA-binding domain

RHD_DNA_bindaa 428–588UCSCRel homology DNA-binding domain

RHD_dimeraa 597–697UCSCRel homology dimerisation domain

Gene Aliases

HGNC Name

nuclear factor of activated T cells 1

HGNC Alias Symbols

NF-ATC; NFAT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001278669.2

p.E249K

c.745G>A

Surrounding Variants

1 paper

NM_001278669.2

p.T247S

c.740C>G

1 paper

NM_001278669.2

p.T247S

c.739A>T

1 paper

NM_001278669.2

p.V246I

c.736G>A

1 paper

NM_001278669.2

p.G253A

c.758G>C

1 paper

NM_001278669.2

p.A244insFs

c.730_731insT

1 paper

NM_001278669.2

p.R243R

c.729C>T

1 paper

NM_001278669.2

p.R255C

c.763C>T

1 paper

NM_001278669.2

p.P242A

c.724C>G

2 papers

NM_001278669.2

p.P238P

c.714C>T

1 paper

NM_001278669.2

p.S261A

c.781T>G

1 paper

NM_001278669.2

p.P262fs

c.784_785fs

1 paper

NM_001278669.2

p.P262insFs

c.785_786insG