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.T215T

c.645G>A

Surrounding Variants

1 paper

NM_001278669.2

p.T215A

c.643A>G

1 paper

NM_001278669.2

p.D216E

c.648C>A

1 paper

NM_001278669.2

p.E218K

c.652G>A

1 paper

NM_001278669.2

p.G220S

c.658G>A

7 papers

NM_001278669.2

p.V210M

c.628G>A

NM_172387.3

p.V197M

c.589G>A

1 paper

NM_001278669.2

p.P222L

c.665C>T

2 papers

NM_001278669.2

p.C209R

c.625T>C

1 paper

NM_001278669.2

p.R223C

c.667C>T

1 paper

NM_001278669.2

p.S207A

c.619T>G

1 paper

NM_001278669.2

p.Q201K

c.601C>A

1 paper

NM_001278669.2

p.Q201*

c.601C>T

3 papers

NM_172387.3

p.R222Q

c.665G>A

NM_001278669.2

p.R235Q

c.704G>A