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

1 paper

NM_138713.4

p.K591_A592delFs

c.1773_1774delAG

Surrounding Variants

3 papers

NM_138713.4

p.A566G

c.1697C>G

1 paper

NM_138713.4

p.K594delFs

c.1781_1782delAA

1 paper

NM_138713.4

p.E654G

c.1961A>G

1 paper

NM_138713.4

p.P690L

c.2069C>T

1 paper

NM_138713.4

p.L693L

c.2079G>A

1 paper

NM_138713.4

p.D720V

c.2159A>T

1 paper

NM_138713.4

p.P763T

c.2287C>A

1 paper

NM_138713.4

p.A798_G799delFs

c.2394_2395delAG

1 paper

NM_138713.4

p.F801delFs

c.2402_2403delTC

1 paper

NM_138713.4

p.G803del1

c.2407_2409delGGC

2 papers

NM_138713.4

p.S809C

c.2425A>T

1 paper

NM_138713.4

p.N839I

c.2516A>T