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.N873N

c.2619T>C

Surrounding Variants

1 paper

NM_004795.4

p.N873K

c.2619T>A

1 paper

NM_004795.4

p.N873K

c.2619T>G

1 paper

NM_004795.4

p.D876N

c.2626G>A

1 paper

NM_004795.4

p.G864E

c.2591G>A

1 paper

NM_004795.4

p.L886L

c.2656C>T

1 paper

NM_004795.4

p.E897K

c.2689G>A

1 paper

NM_004795.4

p.L899V

c.2695C>G

2 papers

NM_004795.4

p.V845G

c.2534T>G

1 paper

NM_004795.4

p.D820G

c.2459A>G

1 paper

NM_004795.4

p.S816P

c.2446T>C

1 paper

NM_004795.4

p.K795delFs

c.2384delA

1 paper

NM_004795.4

p.F784S

c.2351T>C