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.N308D

c.922A>G

Surrounding Variants

1 paper

NM_012340.5

p.V302L

c.904G>T

1 paper

NM_012340.5

p.V302L

c.904G>C

1 paper

NM_012340.5

p.V302M

c.904G>A

1 paper

NM_012340.5

p.G317E

c.950G>A

1 paper

NM_012340.5

p.A298V

c.893C>T

1 paper

NM_012340.5

p.Y294H

c.880T>C

1 paper

NM_012340.5

p.S330L

c.989C>T

1 paper

NM_012340.5

p.A284T

c.850G>A

1 paper

NM_012340.5

p.V332insFs

c.995_996insC

1 paper

NM_012340.5

p.S337P

c.1009T>C

1 paper

NM_012340.5

p.P275S

c.823C>T

1 paper

NM_012340.5

p.R271R

c.813C>T