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

1–12 of 151 variants

6 papers

NM_004117.4

p.G281A

c.842G>C

5 papers

NM_004117.4

p.M429I

c.1287G>A

4 papers

NM_004117.4

p.D68V

c.203A>T

4 papers

NM_004117.4

p.L119P

c.356T>C

3 papers

NM_004117.4

p.V55L

c.163G>C

3 papers

NM_004117.4

p.R184_D185insFs

c.552_553ins4

3 papers

NM_004117.4

p.K280_G281Splc

c.841-1G>C

3 papers

NM_004117.4

p.A287V

c.860C>T

2 papers

NM_004117.4

p.K35_I36Splc

c.106-2636A>G

2 papers

NM_004117.4

p.K58T

c.173A>C

2 papers

NM_004117.4

p.G64R

c.190G>C

2 papers

NM_004117.4

p.G64R

c.190G>A