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

13 papers

NM_004795.4

p.G766G

c.2298C>T

Surrounding Variants

1 paper

NM_004795.4

p.A761A

c.2283T>C

1 paper

NM_004795.4

p.D776A

c.2327A>C

1 paper

NM_004795.4

p.D756A

c.2267A>C

1 paper

NM_004795.4

p.N782H

c.2344A>C

2 papers

NM_004795.4

p.R751G

c.2251A>G

1 paper

NM_004795.4

p.A749G

c.2246C>G

1 paper

NM_004795.4

p.F784S

c.2351T>C

1 paper

NM_004795.4

p.K795delFs

c.2384delA

1 paper

NM_004795.4

p.W734*

c.2201G>A

1 paper

NM_004795.4

p.Q731K

c.2191C>A

1 paper

NM_004795.4

p.S816P

c.2446T>C

1 paper

NM_004795.4

p.D820G

c.2459A>G