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.T881M

c.2642C>T

Surrounding Variants

1 paper

NM_001278669.2

p.P879L

c.2636C>T

1 paper

NM_001278669.2

p.G873S

c.2617G>A

1 paper

NM_001278669.2

p.P858S

c.2572C>T

1 paper

NM_001278669.2

p.P853_A854ins6

c.2557_2561ins18

1 paper

NM_001278669.2

p.P853_A854ins8

c.2557_2561ins24

2 papers

NM_001278669.2

p.K914R

c.2741A>G

1 paper

NM_001278669.2

p.P844T

c.2530C>A

1 paper

NM_001278669.2

p.P844S

c.2530C>T

1 paper

NM_001278669.2

p.C843*

c.2529C>A

NM_172387.3

p.C830*

c.2490C>A

1 paper

NM_001278669.2

p.V928I

c.2782G>A

1 paper

NM_001278669.2

p.G795R

c.2383G>A

1 paper

NM_001278669.2

p.G795R

c.2383G>C