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.Q897del1

c.2689_2691delCAA

Surrounding Variants

1 paper

NM_138713.4

p.T893M

c.2678C>T

1 paper

NM_138713.4

p.Q902_S910del9

c.2704_2729del27

1 paper

NM_138713.4

p.Q903E

c.2707C>G

1 paper

NM_138713.4

p.S910F

c.2729C>T

1 paper

NM_138713.4

p.L879L

c.2637A>G

2 papers

NM_138713.4

p.P880del1

c.2638_2640delCCT

1 paper

NM_138713.4

p.S921C

c.2761A>T

1 paper

NM_138713.4

p.Q928R

c.2783A>G

1 paper

NM_138713.4

p.I848_Q856del9

c.2542_2567del27

1 paper

NM_138713.4

p.N839I

c.2516A>T

1 paper

NM_138713.4

p.M968V

c.2902A>G

2 papers

NM_138713.4

p.S809C

c.2425A>T