Varaico: Literature-Extracted Genetic Variants

KL

511 papers

RefSeq Summary

This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one...

Pfam Domains

Glyco_hydro_1aa 57–382UCSCGlycosyl hydrolase family 1

Glyco_hydro_1aa 378–506UCSCGlycosyl hydrolase family 1

Glyco_hydro_1aa 515–953UCSCGlycosyl hydrolase family 1

Gene Aliases

HGNC Name

klotho

HGNC Alias Symbol

KLA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004795.4

p.D238delFs

c.712delG

Surrounding Variants

1 paper

NM_004795.4

p.I235delFs

c.703_704delAT

1 paper

NM_004795.4

p.Y233_W234delins

c.697_700delinsTAAC

1 paper

NM_004795.4

p.K232R

c.695A>G

1 paper

NM_004795.4

p.K232E

c.694A>G

1 paper

NM_004795.4

p.Q230_V231del2

c.688_692del6

1 paper

NM_004795.4

p.G229insFs

c.686_687insGG

1 paper

NM_004795.4

p.Y248delFs

c.744delC

1 paper

NM_004795.4

p.F227insFs

c.679_680insA

1 paper

NM_004795.4

p.Y248*

c.744C>A

1 paper

NM_004795.4

p.H226_F227insFs

c.678_679insA

1 paper

NM_004795.4

p.Y248*

c.744C>G

1 paper

NM_004795.4

p.H226_Q230del5

c.676_689del15