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.L725F

c.2173C>T

Surrounding Variants

1 paper

NM_001278669.2

p.G721E

c.2162G>A

1 paper

NM_001278669.2

p.Q733*

c.2197C>T

1 paper

NM_001278669.2

p.D739G

c.2216A>G

1 paper

NM_001278669.2

p.V745M

c.2233G>A

1 paper

NM_001278669.2

p.K702R

c.2105A>G

1 paper

NM_001278673.2

p.P277_P278del1

c.831_833delGCC

1 paper

NM_001278669.2

p.I701L

c.2101A>C

1 paper

NM_001278669.2

p.I701L

c.2101A>T

6 papers

NM_001278669.2

p.C751G

c.2251T>G

1 paper

NM_001278669.2

p.C751fs

c.2251_2252fs

1 paper

NM_001278669.2

p.L771I

c.2311C>A

1 paper

NM_001278669.2

p.H785_C786insG

c.2353_2357ins3