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.V323E

c.968T>A

Surrounding Variants

1 paper

NM_138713.4

p.P332A

c.994C>G

1 paper

NM_138713.4

p.R311P

c.932G>C

1 paper

NM_138713.4

p.Q305E

c.913C>G

1 paper

NM_138713.4

p.V303I

c.907G>A

1 paper

NM_138713.4

p.K301_V304del0

c.902_910del9

2 papers

NM_138713.4

p.E299A

c.896A>C

2 papers

NM_138713.4

p.K294delFs

c.880delA

1 paper

NM_138713.4

p.K283_M286del0

c.848_856del9

1 paper

NM_138713.4

p.G278E

c.833G>A

1 paper

NM_138713.4

p.E341Q

c.1021G>C

1 paper

NM_138713.4

p.D352N

c.1054G>A

1 paper

NM_138713.4

p.P358S

c.1072C>T