Varaico: Literature-Extracted Genetic Variants

Gene:FKBP6
Variant:p.R82L

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.R82L
c.245G>T
Surrounding Variants
1 paper
NM_003602.5
p.R82P
c.245G>C
1 paper
NM_003602.5
p.P81L
c.242C>T
1 paper
NM_003602.5
p.T80_P81delins
c.240_241delinsTG
1 paper
NM_003602.5
p.P81S
c.241C>T
5 papers
NM_003602.5
p.F72L
c.216C>A
3 papers
NM_003602.5
p.F72L
c.216C>G
3 papers
NM_003602.5
p.F72L
c.214T>C
1 paper
NM_003602.5
p.H67H
c.201C>T
1 paper
NM_003602.5
p.S62A
c.184T>G
1 paper
NM_003602.5
p.K60N
c.180A>C
1 paper
NM_003602.5
p.K60N
c.180A>T
1 paper
NM_003602.5
p.V59Splc
c.176-2A>G
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