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.V156M

c.466G>A

Surrounding Variants

1 paper

NM_004795.4

p.V156insFs

c.467_468insT

1 paper

NM_004795.4

p.V156G

c.467T>G

1 paper

NM_004795.4

p.R155Q

c.464G>A

1 paper

NM_004795.4

p.R155*

c.463C>T

1 paper

NM_004795.4

p.F149F

c.447C>T

1 paper

NM_004795.4

p.P165S

c.493C>T

1 paper

NM_004795.4

p.H146Q

c.438C>A

1 paper

NM_004795.4

p.H146Q

c.438C>G

1 paper

NM_004795.4

p.E168*

c.502G>T

1 paper

NM_004795.4

p.G169R

c.505G>A

1 paper

NM_004795.4

p.G169R

c.505G>C

2 papers

NM_004795.4

p.G169A

c.506G>C