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

2 papers

NM_001278669.2

p.S169A

c.505T>G

Surrounding Variants

1 paper

NM_001278669.2

p.Y165C

c.494A>G

1 paper

NM_001278669.2

p.S175T

c.524G>C

1 paper

NM_001278669.2

p.S176T

c.527G>C

1 paper

NM_001278669.2

p.S176I

c.527G>T

1 paper

NM_001278669.2

p.P160S

c.478C>T

1 paper

NM_001278669.2

p.L159delFs

c.475_476delCT

1 paper

NM_001278669.2

p.N183Y

c.547A>T

1 paper

NM_001278669.2

p.T154M

c.461C>T

1 paper

NM_001278669.2

p.T154A

c.460A>G

1 paper

NM_001278669.2

p.S153P

c.457T>C

1 paper

NM_001278669.2

p.S153A

c.457T>G

1 paper

NM_001278669.2

p.S151F

c.452C>T