Varaico: Literature-Extracted Genetic Variants

Gene:FKBP1B
Variant:p.P46delFs

FKBP1B

52 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 1–76UCSCFKBP-type peptidyl-prolyl cis-trans isomerase
FKBP_Caa 13–105UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

Gene Aliases

HGNC Name

FKBP prolyl isomerase 1B

HGNC Previous Symbol

FKBP1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004116.5
p.P46delFs
c.136delC
Surrounding Variants
1 paper
NM_004116.5
p.K45fs
c.133_134fs
1 paper
NM_004116.5
p.N44K
c.132C>A
1 paper
NM_004116.5
p.N44K
c.132C>G
1 paper
NM_004116.5
p.F47_E55del0
c.140_163del24
1 paper
NM_004116.5
p.K48fs
c.142_143fs
1 paper
NM_004116.5
p.K48M
c.143A>T
1 paper
NM_004116.5
p.I51N
c.152T>A
1 paper
NM_004116.5
p.V56A
c.167T>C
1 paper
NM_004116.5
p.G29Splc
c.86-2A>G
1 paper
NM_004116.5
p.P79S
c.235C>T
1 paper
NM_004116.5
p.D80_V81delins
c.240_241delinsTG
1 paper
NM_004116.5
p.A82P
c.244G>C
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