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

1–12 of 272 variants

80 papers

NM_004795.4

p.F352V

c.1054T>G

67 papers

NM_004795.4

p.C370S

c.1108T>A

67 papers

NM_004795.4

p.C370S

c.1109G>C

19 papers

NM_004795.4

p.H193R

c.578A>G

13 papers

NM_004795.4

p.G766G

c.2298C>T

6 papers

NM_004795.4

p.P12A

c.34C>G

4 papers

NM_004795.4

p.H589H

c.1767C>T

3 papers

NM_004795.4

p.G78G

c.234C>G

3 papers

NM_004795.4

p.R179Q

c.536G>A

3 papers

NM_004795.4

p.D402N

c.1204G>A

3 papers

NM_004795.4

p.P514S

c.1540C>T

2 papers

NM_004795.4

p.M1I

c.3G>A