Varaico: Literature-Extracted Genetic Variants

NFATC2

203 papers

RefSeq Summary

This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). Th...

Pfam Domains

RHD_DNA_bindaa 410–570UCSCRel homology DNA-binding domain

RHD_dimeraa 579–679UCSCRel homology dimerisation domain

Gene Aliases

HGNC Name

nuclear factor of activated T cells 2

HGNC Alias Symbols

NF-ATP; NFATp; NFAT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012340.5

p.T487S

c.1459A>T

Surrounding Variants

1 paper

NM_012340.5

p.T487S

c.1460C>G

1 paper

NM_012340.5

p.Y489C

c.1466A>G

1 paper

NM_012340.5

p.A472V

c.1415C>T

1 paper

NM_012340.5

p.I501I

c.1503A>C

1 paper

NM_012340.5

p.L503fs

c.1507_1508fs

1 paper

NM_012340.5

p.L503F

c.1509G>T

1 paper

NM_012340.5

p.L503F

c.1509G>C

1 paper

NM_012340.5

p.R466W

c.1396C>T

1 paper

NM_012340.5

p.E465K

c.1393G>A

1 paper

NM_012340.5

p.E450K

c.1348G>A

1 paper

NM_012340.5

p.H446L

c.1337A>T

3 papers

NM_012340.5

p.H446R

c.1337A>G