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.V267M

c.799G>A

Surrounding Variants

1 paper

NM_004795.4

p.L271F

c.811C>T

1 paper

NM_004795.4

p.G259R

c.775G>C

1 paper

NM_004795.4

p.R252H

c.755G>A

1 paper

NM_004795.4

p.T250T

c.750C>G

1 paper

NM_004795.4

p.Y248*

c.744C>A

1 paper

NM_004795.4

p.Y248*

c.744C>G

1 paper

NM_004795.4

p.Y248delFs

c.744delC

1 paper

NM_004795.4

p.D238delFs

c.712delG

1 paper

NM_004795.4

p.I235delFs

c.703_704delAT

1 paper

NM_004795.4

p.Y233_W234delins

c.697_700delinsTAAC

1 paper

NM_004795.4

p.K232R

c.695A>G

1 paper

NM_004795.4

p.K232E

c.694A>G