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.M1V

c.1A>G

Surrounding Variants

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

1 paper

NM_138713.4

p.F5L

c.15C>G

1 paper

NM_138713.4

p.I6M

c.18C>G

1 paper

NM_138713.4

p.P18P

c.54C>G

1 paper

NM_138713.4

p.S20P

c.58T>C

1 paper

NM_138713.4

p.L21_Y22insFs

c.63_64ins13

1 paper

NM_138713.4

p.D25Splc

c.74-1G>C

1 paper

NM_138713.4

p.N34I

c.101A>T

1 paper

NM_138713.4

p.R37G

c.109A>G

1 paper

NM_138713.4

p.G39G

c.117A>T