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.G80S

c.238G>A

Surrounding Variants

1 paper

NM_012340.5

p.L78P

c.233T>C

1 paper

NM_012340.5

p.P83L

c.248C>T

1 paper

NM_012340.5

p.A76V

c.227C>T

1 paper

NM_012340.5

p.P71S

c.211C>T

1 paper

NM_012340.5

p.P89Q

c.266C>A

1 paper

NM_012340.5

p.K70T

c.209A>C

3 papers

NM_012340.5

p.R91W

c.271A>T

1 paper

NM_012340.5

p.Q95L

c.284A>T

1 paper

NM_012340.5

p.K96*

c.286A>T

1 paper

NM_012340.5

p.D63_V64insFs

c.189_190insC

1 paper

NM_012340.5

p.D62Y

c.184G>T

1 paper

NM_012340.5

p.A100T

c.298G>A