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

1–12 of 153 variants

3 papers

NM_012340.5

p.R91W

c.271A>T

3 papers

NM_012340.5

p.H446R

c.1337A>G

3 papers

NM_012340.5

p.D584A

c.1751A>C

2 papers

NM_012340.5

p.V51L

c.151G>C

2 papers

NM_012340.5

p.E114_I115del0

c.340_345del6

2 papers

NM_012340.5

p.P378A

c.1132C>G

2 papers

NM_012340.5

p.R651H

c.1952G>A

2 papers

NM_012340.5

p.Y675_H676delFs

c.2023_2026del4

2 papers

NM_012340.5

p.R754W

c.2260C>T

2 papers

NM_012340.5

p.P800L

c.2399C>T

2 papers

NM_012340.5

p.P880L

c.2639C>T

1 paper

NM_012340.5

p.P4delFs

c.12delG