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.K102E

c.304A>G

Surrounding Variants

1 paper

NM_012340.5

p.A100T

c.298G>A

1 paper

NM_012340.5

p.A106T

c.316G>A

1 paper

NM_012340.5

p.K96*

c.286A>T

1 paper

NM_012340.5

p.Q95L

c.284A>T

3 papers

NM_012340.5

p.R91W

c.271A>T

1 paper

NM_012340.5

p.P89Q

c.266C>A

1 paper

NM_012340.5

p.T116A

c.346A>G

2 papers

NM_012340.5

p.E114_I115del0

c.340_345del6

1 paper

NM_012340.5

p.I115del1

c.343_344delGAT

1 paper

NM_012340.5

p.E120K

c.358G>A

1 paper

NM_012340.5

p.P83L

c.248C>T

1 paper

NM_012340.5

p.G80S

c.238G>A