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.L370R

c.1109T>G

Surrounding Variants

1 paper

NM_012340.5

p.P376T

c.1126C>A

1 paper

NM_012340.5

p.K377E

c.1129A>G

2 papers

NM_012340.5

p.P378A

c.1132C>G

1 paper

NM_012340.5

p.C355Y

c.1064G>A

1 paper

NM_012340.5

p.P354L

c.1061C>T

1 paper

NM_012340.5

p.S337P

c.1009T>C

1 paper

NM_012340.5

p.V332insFs

c.995_996insC

1 paper

NM_012340.5

p.S330L

c.989C>T

1 paper

NM_012340.5

p.G317E

c.950G>A

1 paper

NM_012340.5

p.N308D

c.922A>G

1 paper

NM_012340.5

p.V302L

c.904G>T

1 paper

NM_012340.5

p.V302L

c.904G>C