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.Q73H

c.219G>C

Surrounding Variants

1 paper

NM_001278669.2

p.Q73H

c.219G>T

1 paper

NM_001278669.2

p.L72H

c.215T>A

4 papers

NM_001278669.2

p.P77L

c.230C>T

1 paper

NM_001278669.2

p.P68T

c.202C>A

2 papers

NM_001278669.2

p.P66L

c.197C>T

1 paper

NM_001278669.2

p.S63C

c.188C>G

1 paper

NM_001278669.2

p.H62R

c.185A>G

1 paper

NM_001278669.2

p.P86L

c.257C>T

1 paper

NM_001278669.2

p.T60M

c.179C>T

1 paper

NM_001278669.2

p.L56M

c.166C>A

1 paper

NM_001278669.2

p.P97R

c.290C>G

1 paper

NM_001278669.2

p.F101Y

c.302T>A