Varaico: Literature-Extracted Genetic Variants

FKBP5

278 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 158–248UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

TPR_1aa 318–350UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

FKBP prolyl isomerase 5

HGNC Alias Symbols

FKBP51; FKBP54; PPIase; P54; Ptg-10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004117.4

p.R184_D185insFs

c.552_553ins4

Surrounding Variants

1 paper

NM_004117.4

p.C183S

c.548G>C

1 paper

NM_004117.4

p.C183S

c.547T>A

1 paper

NM_004117.4

p.M180V

c.538A>G

1 paper

NM_004117.4

p.C176S

c.527G>C

1 paper

NM_004117.4

p.C176Y

c.527G>A

1 paper

NM_004117.4

p.C176S

c.526T>A

1 paper

NM_004117.4

p.R175H

c.524G>A

1 paper

NM_004117.4

p.R175S

c.523C>A

2 papers

NM_004117.4

p.D195A

c.584A>C

1 paper

NM_004117.4

p.E207A

c.620A>C

1 paper

NM_004117.4

p.R211W

c.631C>T

1 paper

NM_004117.4

p.Q214H

c.642A>T