Varaico: Literature-Extracted Genetic Variants

NFAT5

106 papers

RefSeq Summary

The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription ...

Pfam Domains

RHD_DNA_bindaa 282–439UCSCRel homology DNA-binding domain

RHD_dimeraa 446–545UCSCRel homology dimerisation domain

Gene Aliases

HGNC Name

nuclear factor of activated T cells 5

HGNC Alias Symbols

TONEBP; KIAA0827; NFATL1; OREBP; NFATZ; NF-AT5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_138713.4

p.E1500K

c.4498G>A

Surrounding Variants

1 paper

NM_138713.4

p.T1507S

c.4519A>T

1 paper

NM_138713.4

p.T1507R

c.4520C>G

1 paper

NM_138713.4

p.S1454C

c.4361C>G

1 paper

NM_138713.4

p.G1445R

c.4333G>A

1 paper

NM_138713.4

p.G1445R

c.4333G>C

1 paper

NM_138713.4

p.M1399T

c.4196T>C

1 paper

NM_138713.4

p.S1398Y

c.4193C>A

1 paper

NM_138713.4

p.H1328D

c.3982C>G

1 paper

NM_138713.4

p.P1303A

c.3907C>G

1 paper

NM_138713.4

p.A1298V

c.3893C>T

1 paper

NM_138713.4

p.A1298S

c.3892G>T

1 paper

NM_138713.4

p.Q1277ins1

c.3830_3831insACA