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.Q1001*

c.3001C>T

Surrounding Variants

1 paper

NM_138713.4

p.A993ins1

c.2978_2979insACA

1 paper

NM_138713.4

p.T989T

c.2967A>G

1 paper

NM_138713.4

p.T1025S

c.3073A>T

1 paper

NM_138713.4

p.T1025S

c.3074C>G

1 paper

NM_138713.4

p.M968V

c.2902A>G

1 paper

NM_138713.4

p.Q1036ins1

c.3107_3108insACA

1 paper

NM_138713.4

p.S1054N

c.3161G>A

1 paper

NM_138713.4

p.G1067E

c.3200G>A

1 paper

NM_138713.4

p.Q928R

c.2783A>G

1 paper

NM_138713.4

p.S921C

c.2761A>T

1 paper

NM_138713.4

p.Q1086_L1089delFs

c.3256_3266del11

1 paper

NM_138713.4

p.S910F

c.2729C>T