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.F216L

c.646T>C

Surrounding Variants

1 paper

NM_004795.4

p.F216L

c.648C>A

1 paper

NM_004795.4

p.F216L

c.648C>G

1 paper

NM_004795.4

p.R217K

c.650G>A

1 paper

NM_004795.4

p.Y219S

c.656A>C

1 paper

NM_004795.4

p.A220T

c.658G>A

1 paper

NM_004795.4

p.A220E

c.659C>A

1 paper

NM_004795.4

p.L222delFs

c.666delC

1 paper

NM_004795.4

p.F224delFs

c.671delT

1 paper

NM_004795.4

p.H226_Q230del5

c.676_689del15

1 paper

NM_004795.4

p.H226_F227insFs

c.678_679insA

1 paper

NM_004795.4

p.G205D

c.614G>A

1 paper

NM_004795.4

p.F227insFs

c.679_680insA