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

4 papers

NM_004795.4

p.H589H

c.1767C>T

Surrounding Variants

1 paper

NM_004795.4

p.H589Y

c.1765C>T

1 paper

NM_004795.4

p.D574Y

c.1720G>T

1 paper

NM_004795.4

p.K569*

c.1705A>T

1 paper

NM_004795.4

p.R568K

c.1703G>A

1 paper

NM_004795.4

p.V564V

c.1692G>C

1 paper

NM_004795.4

p.D561Y

c.1681G>T

1 paper

NM_004795.4

p.V560G

c.1679T>G

1 paper

NM_004795.4

p.V634V

c.1902G>A

1 paper

NM_004795.4

p.L544L

c.1630C>T

1 paper

NM_004795.4

p.D543insFs

c.1628_1629insT

1 paper

NM_004795.4

p.L544delFs

c.1630delC

1 paper

NM_004795.4

p.P643P

c.1929G>A