Varaico: Literature-Extracted Genetic Variants

FKBP4

129 papers

RefSeq Summary

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This enco...

Pfam Domains

FKBP_Caa 43–135UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

FKBP_Caa 160–250UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

TPR_1aa 320–352UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

FKBP prolyl isomerase 4

HGNC Alias Symbols

FKBP59; FKBP52

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002014.4

p.L319P

c.956T>C

Surrounding Variants

1 paper

NM_002014.4

p.E309D

c.927G>C

1 paper

NM_002014.4

p.E309D

c.927G>T

1 paper

NM_002014.4

p.A338V

c.1013C>T

1 paper

NM_002014.4

p.S298S

c.894T>G

1 paper

NM_002014.4

p.R276Q

c.827G>A

1 paper

NM_002014.4

p.K274N

c.822A>C

1 paper

NM_002014.4

p.K274N

c.822A>T

1 paper

NM_002014.4

p.L346P

c.1037T>C

1 paper

NM_002014.4

p.G228_S229insFs

c.684_685insG

1 paper

NM_002014.4

p.G228insFs

c.683_684insG

1 paper

NM_002014.4

p.F227C

c.680T>G

1 paper

NM_002014.4

p.K354T

c.1061A>C