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

Selected Variant

2 papers

NM_002014.4

p.E110Q

c.328G>C

Surrounding Variants

1 paper

NM_002014.4

p.E110*

c.328G>T

1 paper

NM_002014.4

p.I105V

c.313A>G

1 paper

NM_002014.4

p.A116T

c.346G>A

1 paper

NM_002014.4

p.A116G

c.347C>G

2 papers

NM_002014.4

p.A116V

c.347C>T

1 paper

NM_002014.4

p.G117D

c.350G>A

1 paper

NM_002014.4

p.G117A

c.350G>C

1 paper

NM_002014.4

p.G117V

c.350G>T

1 paper

NM_002014.4

p.V102G

c.305T>G

1 paper

NM_002014.4

p.S118N

c.353G>A

2 papers

NM_002014.4

p.P119L

c.356C>T

1 paper

NM_002014.4

p.P120R

c.359C>G