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_006599.4

p.S1130L

c.3389C>T

Surrounding Variants

1 paper

NM_138713.4

p.S1147F

c.3440C>T

1 paper

NM_138713.4

p.Q1138E

c.3412C>G

1 paper

NM_138713.4

p.F1178fs

c.3532_3533fs

1 paper

NM_138713.4

p.A1180A

c.3540A>G

1 paper

NM_138713.4

p.S1184ins1

c.3551_3552insACA

1 paper

NM_138713.4

p.S1186C

c.3557C>G

1 paper

NM_138713.4

p.P1187L

c.3560C>T

1 paper

NM_138713.4

p.A1204S

c.3610G>T

1 paper

NM_138713.4

p.A1204V

c.3611C>T

1 paper

NM_138713.4

p.Q1086_L1089delFs

c.3256_3266del11

1 paper

NM_138713.4

p.Q1228*

c.3682C>T

1 paper

NM_138713.4

p.G1067E

c.3200G>A