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.H288fs

c.862_863fs

Surrounding Variants

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.P285insFs

c.853_854ins8

1 paper

NM_001278669.2

p.P285fs

c.853_854fs

1 paper

NM_001278669.2

p.P285ins2

c.853_854ins6

1 paper

NM_001278669.2

p.T284M

c.851C>T

1 paper

NM_001278669.2

p.D297N

c.889G>A

1 paper

NM_001278669.2

p.R273insFs

c.817dupC

1 paper

NM_001278669.2

p.G272S

c.814G>A

1 paper

NM_001278669.2

p.L270H

c.809T>A

1 paper

NM_001278669.2

p.V313M

c.937G>A

1 paper

NM_001278669.2

p.P262P

c.786T>G