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

3 papers

NM_172387.3

p.R222Q

c.665G>A

NM_001278669.2

p.R235Q

c.704G>A

Surrounding Variants

2 papers

NM_001278669.2

p.P238P

c.714C>T

1 paper

NM_001278669.2

p.P242A

c.724C>G

1 paper

NM_001278669.2

p.R243R

c.729C>T

1 paper

NM_001278669.2

p.A244insFs

c.730_731insT

1 paper

NM_001278669.2

p.V246I

c.736G>A

1 paper

NM_001278669.2

p.T247S

c.739A>T

1 paper

NM_001278669.2

p.T247S

c.740C>G

1 paper

NM_001278669.2

p.R223C

c.667C>T

1 paper

NM_001278669.2

p.P222L

c.665C>T

1 paper

NM_001278669.2

p.E249K

c.745G>A

1 paper

NM_001278669.2

p.G220S

c.658G>A

1 paper

NM_001278669.2

p.E218K

c.652G>A