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.K398T

c.1193A>C

Surrounding Variants

1 paper

NM_001278669.2

p.H392P

c.1175A>C

1 paper

NM_001278669.2

p.L387P

c.1160T>C

1 paper

NM_001278669.2

p.G381_F382insATC

c.1141_1145ins9

1 paper

NM_001278669.2

p.G380S

c.1138G>A

1 paper

NM_001278669.2

p.Q375Q

c.1125G>A

1 paper

NM_001278669.2

p.S373del1

c.1117_1118delTCT

1 paper

NM_001278669.2

p.S372Y

c.1115C>A

1 paper

NM_001278669.2

p.S372_S373del1

c.1116_1118delCTC

1 paper

NM_001278669.2

p.Y371D

c.1111T>G

2 papers

NM_001278669.2

p.A367V

c.1100C>T

1 paper

NM_001278669.2

p.P360A

c.1078C>G

1 paper

NM_001278669.2

p.L357V

c.1069C>G