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.S347P

c.1039T>C

Surrounding Variants

1 paper

NM_004795.4

p.S347delFs

c.1041delT

1 paper

NM_004795.4

p.I348fs

c.1042_1043fs

1 paper

NM_004795.4

p.K342E

c.1024A>G

80 papers

NM_004795.4

p.F352V

c.1054T>G

1 paper

NM_004795.4

p.E339fs

c.1015_1016fs

1 paper

NM_004795.4

p.D336insFs

c.1007_1008ins8

1 paper

NM_004795.4

p.G335A

c.1004G>C

1 paper

NM_004795.4

p.D334Y

c.1000G>T

1 paper

NM_004795.4

p.K361*

c.1081A>T

1 paper

NM_004795.4

p.K329_P330delFs

c.987_988delAC

1 paper

NM_004795.4

p.K329delFs

c.986delA

1 paper

NM_004795.4

p.A328S

c.982G>T