Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.M326delFs

FKBP10

218 papers

RefSeq Summary

The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Al...

Pfam Domains

FKBP_Caa 55–147UCSCFKBP-type peptidyl-prolyl cis-trans isomerase
FKBP_Caa 167–259UCSCFKBP-type peptidyl-prolyl cis-trans isomerase
FKBP_Caa 279–371UCSCFKBP-type peptidyl-prolyl cis-trans isomerase
FKBP_Caa 392–483UCSCFKBP-type peptidyl-prolyl cis-trans isomerase
EF-hand_5aa 503–526UCSCEF hand
EF-hand_5aa 547–569UCSCEF hand

Gene Aliases

HGNC Name

FKBP prolyl isomerase 10

HGNC Alias Symbols

hFKBP65; FKBP65; FLJ22041; FLJ20683; FLJ23833

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_021939.4
p.M326delFs
c.976delA
Surrounding Variants
1 paper
NM_021939.4
p.M326fs
c.976_977fs
1 paper
NM_021939.4
p.M326V
c.976A>G
2 papers
NM_021939.4
p.M326fs
c.976_977fs
1 paper
NM_021939.4
p.G329E
c.986G>A
3 papers
NM_021939.4
p.I317insFs
c.950_951dupTC
1 paper
NM_021939.4
p.I317fs
c.949_950fs
1 paper
NM_021939.4
p.C334Y
c.1001G>A
5 papers
NM_021939.4
p.Y316insFs
c.948dupT
1 paper
NM_021939.4
p.M335V
c.1003A>G
1 paper
NM_021939.4
p.E337K
c.1009G>A
1 paper
NM_021939.4
p.N314_G325del12
c.940_974del36
1 paper
NM_021939.4
p.R338C
c.1012C>T
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