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

5 papers

NM_004117.4

p.M429I

c.1287G>A

Surrounding Variants

1 paper

NM_004117.4

p.K432del1

c.1294_1295delCTT

1 paper

NM_004117.4

p.V437F

c.1309G>T

1 paper

NM_004117.4

p.K422R

c.1265A>G

1 paper

NM_004117.4

p.M412K

c.1235T>A

1 paper

NM_004117.4

p.D405D

c.1215C>T

1 paper

NM_004117.4

p.N402K

c.1206C>G

1 paper

NM_004117.4

p.N402K

c.1206C>A

1 paper

NM_004117.4

p.A398D

c.1193C>A

1 paper

NM_004117.4

p.C394S

c.1181G>C

1 paper

NM_004117.4

p.C394S

c.1180T>A

1 paper

NM_004117.4

p.S392F

c.1175C>T

2 papers

NM_004117.4

p.Q383L

c.1148A>T