Varaico: Literature-Extracted Genetic Variants

Gene:FKBP6
Variant:p.R175Q

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.R175Q
c.524G>A
Surrounding Variants
1 paper
NM_001135211.3
p.R170_F177insFs
c.508_529dup22
1 paper
NM_003602.5
p.F177fs
c.529_530fs
2 papers
NM_003602.5
p.F177fs
c.529_530fs
1 paper
NM_003602.5
p.T173M
c.518C>T
3 papers
NM_003602.5
p.V170_F177insFs
c.508_529dup22
3 papers
NM_003602.5
p.R183C
c.547C>T
1 paper
NM_003602.5
p.K191R
c.572A>G
2 papers
NM_003602.5
p.A156_E157Splc
c.469-2A>T
1 paper
NM_003602.5
p.S148A
c.442T>G
1 paper
NM_003602.5
p.D144H
c.430G>C
1 paper
NM_003602.5
p.L143L
c.429G>T
1 paper
NM_003602.5
p.P129A
c.385C>G
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