Varaico: Literature-Extracted Genetic Variants

Gene:FKBP6
Variant:p.L223L

FKBP6

109 papers

RefSeq Summary

The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is loc...

Pfam Domains

FKBP_Caa 48–140UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

Gene Aliases

HGNC Name

FKBP prolyl isomerase family member 6 (inactive)

HGNC Alias Symbols

PPIase; FKBP36

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003602.5
p.L223L
c.667C>T
Surrounding Variants
1 paper
NM_003602.5
p.V221D
c.662T>A
1 paper
NM_003602.5
p.S226P
c.676T>C
1 paper
NM_001281304.2
p.F197_T206delFs
c.589_616del28
1 paper
NM_003602.5
p.V214V
c.642G>C
1 paper
NM_001362789.2
p.E170_L177insFs
c.508_529dup22
4 papers
NM_001281304.2
p.R204*
c.610C>T
NM_003602.5
p.R234*
c.700C>T
1 paper
NM_003602.5
p.P235S
c.703C>T
1 paper
NM_003602.5
p.P235L
c.704C>T
1 paper
NM_001362789.2
p.G197_K206delFs
c.589_616del28
2 papers
NM_003602.5
p.R204*
c.610C>T
1 paper
NM_003602.5
p.R202H
c.605G>A
1 paper
NM_001135211.3
p.R197_Q206delFs
c.589_616del28
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