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.S312Y

c.935C>A

Surrounding Variants

1 paper

NM_004117.4

p.A319T

c.955G>A

1 paper

NM_004117.4

p.F315_A318del4

c.943_953del12

1 paper

NM_004117.4

p.L298F

c.894A>T

1 paper

NM_004117.4

p.L298F

c.894A>C

1 paper

NM_004117.4

p.K293K

c.879G>A

3 papers

NM_004117.4

p.A287V

c.860C>T

1 paper

NM_004117.4

p.C339S

c.1015T>A

1 paper

NM_004117.4

p.C339S

c.1016G>C

6 papers

NM_004117.4

p.G281A

c.842G>C

1 paper

NM_004117.4

p.G281E

c.842G>A

3 papers

NM_004117.4

p.K280_G281Splc

c.841-1G>C

1 paper

NM_004117.4

p.A343T

c.1027G>A