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.W279R

c.835T>A

Surrounding Variants

1 paper

NM_004795.4

p.W279R

c.835T>C

1 paper

NM_004795.4

p.W279*

c.836G>A

1 paper

NM_004795.4

p.A274V

c.821C>T

1 paper

NM_004795.4

p.L273_A274Splc

c.820-1G>C

1 paper

NM_004795.4

p.S285T

c.853T>A

1 paper

NM_004795.4

p.R287H

c.860G>A

1 paper

NM_004795.4

p.Q293_V294insC

c.877_881ins3

1 paper

NM_004795.4

p.A297T

c.889G>A

1 paper

NM_004795.4

p.W302*

c.905G>A

1 paper

NM_004795.4

p.W302*

c.906G>A

1 paper

NM_004795.4

p.P305_R306insFs

c.915_916insC

1 paper

NM_004795.4

p.A328S

c.982G>T