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.D322N

c.964G>A

Surrounding Variants

1 paper

NM_001278669.2

p.L319V

c.955C>G

1 paper

NM_001278669.2

p.A318T

c.952G>A

1 paper

NM_001278669.2

p.V313M

c.937G>A

1 paper

NM_001278669.2

p.V331I

c.991G>A

1 paper

NM_001278669.2

p.T339A

c.1015A>G

1 paper

NM_001278669.2

p.T339N

c.1016C>A

1 paper

NM_001278669.2

p.D297N

c.889G>A

1 paper

NM_001278669.2

p.K349R

c.1046A>G

1 paper

NM_001278669.2

p.H288fs

c.862_863fs

1 paper

NM_001278669.2

p.P287P

c.861G>C

1 paper

NM_001278669.2

p.P287L

c.860C>T

1 paper

NM_001278669.2

p.L357V

c.1069C>G