Varaico: Literature-Extracted Genetic Variants

FKBP4

129 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 160–250UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

TPR_1aa 320–352UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

FKBP prolyl isomerase 4

HGNC Alias Symbols

FKBP59; FKBP52

Papers

RefSeq ID

Protein change

DNA change

1–12 of 107 variants

3 papers

NM_002014.4

p.V55L

c.163G>C

3 papers

NM_002014.4

p.D68V

c.203A>T

2 papers

NM_002014.4

p.Q14*

c.40C>T

2 papers

NM_002014.4

p.G64R

c.190G>C

2 papers

NM_002014.4

p.F67V

c.199T>G

2 papers

NM_002014.4

p.E110Q

c.328G>C

2 papers

NM_002014.4

p.A116V

c.347C>T

2 papers

NM_002014.4

p.P119L

c.356C>T

2 papers

NM_002014.4

p.E131_V132Splc

c.394-1G>A

2 papers

NM_002014.4

p.Q155H

c.465G>C

2 papers

NM_002014.4

p.Q155H

c.465G>T

2 papers

NM_002014.4

p.L319P

c.956T>C