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

2 papers

NM_004795.4

p.F133F

c.399C>T

Surrounding Variants

1 paper

NM_004795.4

p.T136A

c.406A>G

1 paper

NM_004795.4

p.Y129Y

c.387C>T

1 paper

NM_004795.4

p.Y129S

c.386A>C

1 paper

NM_004795.4

p.L139_E141ins1

c.415_423dup9

1 paper

NM_004795.4

p.S128R

c.384C>A

1 paper

NM_004795.4

p.S128R

c.384C>G

1 paper

NM_004795.4

p.S128R

c.382A>C

1 paper

NM_004795.4

p.R140_E141ins4

c.418_422ins12

1 paper

NM_004795.4

p.V124_A125delFs

c.372_375del4

1 paper

NM_004795.4

p.T121T

c.363C>A

1 paper

NM_004795.4

p.H146Q

c.438C>A

1 paper

NM_004795.4

p.H146Q

c.438C>G