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

19 papers

NM_004795.4

p.H193R

c.578A>G

Surrounding Variants

1 paper

NM_004795.4

p.H193Y

c.577C>T

2 papers

NM_004795.4

p.T190A

c.568A>G

1 paper

NM_004795.4

p.Q198E

c.592C>G

1 paper

NM_004795.4

p.P187L

c.560C>T

1 paper

NM_004795.4

p.Q186*

c.556C>T

1 paper

NM_004795.4

p.G184delFs

c.550delG

1 paper

NM_004795.4

p.G205D

c.614G>A

3 papers

NM_004795.4

p.R179Q

c.536G>A

1 paper

NM_004795.4

p.R179W

c.535C>T

1 paper

NM_004795.4

p.R171C

c.511C>T

1 paper

NM_004795.4

p.F216L

c.646T>C

1 paper

NM_004795.4

p.F216L

c.648C>A