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.S124P

c.370T>C

Surrounding Variants

1 paper

NM_001278669.2

p.T123T

c.369C>A

1 paper

NM_001278669.2

p.T123T

c.369C>G

1 paper

NM_001278669.2

p.E121D

c.363G>C

1 paper

NM_001278669.2

p.G127_L128ins1

c.381_382insATC

1 paper

NM_001278669.2

p.L128P

c.383T>C

1 paper

NM_001278669.2

p.P113P

c.339T>A

1 paper

NM_001278669.2

p.A112T

c.334G>A

1 paper

NM_001278669.2

p.D110A

c.329A>C

1 paper

NM_001278669.2

p.S104P

c.310T>C

1 paper

NM_001278669.2

p.V144D

c.431T>A

2 papers

NM_001278669.2

p.P146L

c.437C>T

1 paper

NM_001278669.2

p.F101Y

c.302T>A