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

4 papers

NM_138713.4

p.Q1251R

c.3752A>G

Surrounding Variants

1 paper

NM_138713.4

p.Q1251P

c.3752A>C

1 paper

NM_138713.4

p.M1249_S1255del0

c.3746_3763del18

1 paper

NM_138713.4

p.Q1253Q

c.3759G>A

1 paper

NM_138713.4

p.M1249_S1255del7

c.3745_3764del21

1 paper

NM_138713.4

p.S1255S

c.3765A>G

1 paper

NM_138713.4

p.I1256M

c.3768A>G

1 paper

NM_138713.4

p.Q1245*

c.3733C>T

1 paper

NM_138713.4

p.M1259ins1

c.3776_3777insACA

1 paper

NM_138713.4

p.Q1260ins1

c.3779_3780insACA

1 paper

NM_138713.4

p.Q1266_Q1272del0

c.3797_3814del18

1 paper

NM_138713.4

p.Q1268*

c.3802C>T

1 paper

NM_138713.4

p.Q1271Q

c.3813G>A