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

1–12 of 188 variants

6 papers

NM_001278669.2

p.V210M

c.628G>A

6 papers

NM_001278669.2

p.C751G

c.2251T>G

4 papers

NM_001278669.2

p.P77L

c.230C>T

2 papers

NM_001278669.2

p.P66L

c.197C>T

2 papers

NM_001278669.2

p.P146L

c.437C>T

2 papers

NM_001278669.2

p.S169A

c.505T>G

2 papers

NM_001278669.2

p.S188S

c.564C>T

2 papers

NM_001278669.2

p.C209R

c.625T>C

2 papers

NM_172387.3

p.R222Q

c.665G>A

2 papers

NM_001278669.2

p.P238P

c.714C>T

2 papers

NM_001278669.2

p.D322N

c.964G>A

2 papers

NM_001278669.2

p.A367V

c.1100C>T