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.P209R

c.626C>G

Surrounding Variants

1 paper

NM_012340.5

p.P214L

c.641C>T

1 paper

NM_012340.5

p.P198fs

c.592_593fs

1 paper

NM_012340.5

p.G197insFs

c.591dupG

1 paper

NM_012340.5

p.G196A

c.587G>C

1 paper

NM_012340.5

p.R223*

c.667C>T

1 paper

NM_012340.5

p.R223L

c.668G>T

1 paper

NM_012340.5

p.R223Q

c.668G>A

1 paper

NM_012340.5

p.P193A

c.577C>G

1 paper

NM_012340.5

p.A227V

c.680C>T

1 paper

NM_012340.5

p.P189S

c.565C>T

1 paper

NM_012340.5

p.P185L

c.554C>T

1 paper

NM_012340.5

p.S184F

c.551C>T