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.N42S

c.125A>G

Surrounding Variants

1 paper

NM_004117.4

p.N42I

c.125A>T

1 paper

NM_004117.4

p.E45K

c.133G>A

1 paper

NM_004117.4

p.P47A

c.139C>G

1 paper

NM_004117.4

p.V37G

c.110T>G

1 paper

NM_004117.4

p.V37L

c.109G>C

1 paper

NM_004117.4

p.K35_I36Splc

c.106-1G>C

1 paper

NM_004117.4

p.K35_I36Splc

c.106-2A>G

1 paper

NM_004117.4

p.D51V

c.152A>T

1 paper

NM_004117.4

p.K52R

c.155A>G

1 paper

NM_004117.4

p.G50_D51delFs

c.150_153del4

1 paper

NM_004117.4

p.Y54F

c.161A>T

3 papers

NM_004117.4

p.V55L

c.163G>C