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.G82S

c.244G>A

Surrounding Variants

1 paper

NM_004117.4

p.L81F

c.241C>T

1 paper

NM_004117.4

p.S80_L81delins

c.240_241delinsTG

1 paper

NM_004117.4

p.S80N

c.239G>A

1 paper

NM_004117.4

p.V78A

c.233T>C

1 paper

NM_004117.4

p.E75_P76del2

c.223_227del6

1 paper

NM_004117.4

p.H71Y

c.211C>T

1 paper

NM_004117.4

p.S70I

c.209G>T

4 papers

NM_004117.4

p.D68V

c.203A>T

1 paper

NM_004117.4

p.D68Y

c.202G>T

1 paper

NM_004117.4

p.F67Y

c.200T>A

2 papers

NM_004117.4

p.F67V

c.199T>G

1 paper

NM_004117.4

p.K65N

c.195G>T