Varaico: Literature-Extracted Genetic Variants

Gene:FKBP6
Variant:p.K113_P114insFs

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.K113_P114insFs
c.338_341dup4
Surrounding Variants
1 paper
NM_003602.5
p.P114L
c.341C>T
1 paper
NM_001281304.2
p.T90M
c.269C>T
1 paper
NM_003602.5
p.R104*
c.310A>T
1 paper
NM_003602.5
p.G122R
c.364G>C
1 paper
NM_003602.5
p.P124H
c.371C>A
2 papers
NM_003602.5
p.G98D
c.293G>A
1 paper
NM_003602.5
p.G98S
c.292G>A
1 paper
NM_003602.5
p.P129A
c.385C>G
1 paper
NM_003602.5
p.L143L
c.429G>T
1 paper
NM_003602.5
p.D144H
c.430G>C
1 paper
NM_003602.5
p.S148A
c.442T>G
1 paper
NM_003602.5
p.R82P
c.245G>C
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