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

1 paper

NM_004117.4

p.K121I

c.362A>T

Surrounding Variants

1 paper

NM_004117.4

p.K121R

c.362A>G

1 paper

NM_004117.4

p.K121E

c.361A>G

1 paper

NM_004117.4

p.P120R

c.359C>G

1 paper

NM_004117.4

p.P120A

c.358C>G

4 papers

NM_004117.4

p.L119P

c.356T>C

1 paper

NM_004117.4

p.S124A

c.370T>G

1 paper

NM_004117.4

p.S124P

c.370T>C

1 paper

NM_004117.4

p.G117D

c.350G>A

1 paper

NM_004117.4

p.A116V

c.347C>T

1 paper

NM_004117.4

p.A116T

c.346G>A

1 paper

NM_004117.4

p.Y113_G114insFs

c.338_341dup4

1 paper

NM_004117.4

p.G114S

c.340G>A