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

1–12 of 129 variants

4 papers

NM_138713.4

p.Q1251R

c.3752A>G

3 papers

NM_138713.4

p.A566G

c.1697C>G

2 papers

NM_138713.4

p.K294delFs

c.880delA

2 papers

NM_138713.4

p.E299A

c.896A>C

2 papers

NM_138713.4

p.S809C

c.2425A>T

2 papers

NM_138713.4

p.P880del1

c.2638_2640delCCT

2 papers

NM_138713.4

p.Q897del1

c.2689_2691delCAA

2 papers

NM_138713.4

p.E1500K

c.4498G>A

1 paper

NM_138713.4

p.M1V

c.1A>G

1 paper

NM_138713.4

p.S3S

c.9G>T

1 paper

NM_138713.4

p.F5L

c.13T>C

1 paper

NM_138713.4

p.F5L

c.15C>A