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

1 paper

NM_002014.4

p.L346P

c.1037T>C

Surrounding Variants

1 paper

NM_002014.4

p.K354T

c.1061A>C

2 papers

NM_002014.4

p.L356F

c.1066C>T

1 paper

NM_002014.4

p.R359L

c.1076G>T

1 paper

NM_002014.4

p.H363R

c.1088A>G

1 paper

NM_002014.4

p.D368A

c.1103A>C

2 papers

NM_002014.4

p.L382F

c.1144C>T

1 paper

NM_002014.4

p.R399Q

c.1196G>A

1 paper

NM_002014.4

p.R406W

c.1216C>T

1 paper

NM_002014.4

p.E407G

c.1220A>G

1 paper

NM_002014.4

p.K409R

c.1226A>G

2 papers

NM_002014.4

p.E422del1

c.1264_1265delGAG

1 paper

NM_002014.4

p.K424_A425Splc

c.1272+1G>T