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.R646Q

c.1937G>A

Surrounding Variants

2 papers

NM_012340.5

p.R651H

c.1952G>A

1 paper

NM_012340.5

p.V656A

c.1967T>C

1 paper

NM_012340.5

p.Y675fs

c.2023_2024fs

2 papers

NM_012340.5

p.Y675_H676delFs

c.2023_2026del4

1 paper

NM_012340.5

p.Q634L

c.1901A>T

1 paper

NM_012340.5

p.P679L

c.2036C>T

1 paper

NM_012340.5

p.P691S

c.2071C>T

1 paper

NM_012340.5

p.P691L

c.2072C>T

1 paper

NM_012340.5

p.H699Q

c.2097T>A

1 paper

NM_012340.5

p.P709L

c.2126C>T

1 paper

NM_012340.5

p.A740T

c.2218G>A

1 paper

NM_012340.5

p.R741H

c.2222G>A