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.A778E

c.2333C>A

Surrounding Variants

1 paper

NM_012340.5

p.A778V

c.2333C>T

1 paper

NM_012340.5

p.P774L

c.2321C>T

1 paper

NM_012340.5

p.Q767*

c.2299C>T

1 paper

NM_012340.5

p.L762L

c.2284C>T

2 papers

NM_012340.5

p.P800L

c.2399C>T

2 papers

NM_012340.5

p.R754W

c.2260C>T

1 paper

NM_012340.5

p.A807S

c.2419G>T

1 paper

NM_012340.5

p.S808L

c.2423C>T

1 paper

NM_012340.5

p.Q745K

c.2233C>A

1 paper

NM_012340.5

p.R741H

c.2222G>A

1 paper

NM_012340.5

p.A740T

c.2218G>A

1 paper

NM_012340.5

p.M832I

c.2496G>A