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.R150Q

c.449G>A

Surrounding Variants

1 paper

NM_001278669.2

p.R150W

c.448C>T

1 paper

NM_001278669.2

p.S151A

c.451T>G

1 paper

NM_001278669.2

p.S151F

c.452C>T

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.T154A

c.460A>G

2 papers

NM_001278669.2

p.P146L

c.437C>T

1 paper

NM_001278669.2

p.T154M

c.461C>T

1 paper

NM_001278669.2

p.V144D

c.431T>A

1 paper

NM_001278669.2

p.L159delFs

c.475_476delCT

1 paper

NM_001278669.2

p.P160S

c.478C>T

1 paper

NM_001278669.2

p.Y165C

c.494A>G