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.H83D

c.247C>G

Surrounding Variants

1 paper

NM_004795.4

p.Q82K

c.244C>A

1 paper

NM_004795.4

p.G84R

c.250G>C

1 paper

NM_004795.4

p.G84delFs

c.252delC

3 papers

NM_004795.4

p.G78G

c.234C>G

1 paper

NM_004795.4

p.E77delFs

c.230_231delAG

1 paper

NM_004795.4

p.T76I

c.227C>T

1 paper

NM_004795.4

p.T76delFs

c.228delC

1 paper

NM_004795.4

p.T76_E77delFs

c.226_230del5

1 paper

NM_004795.4

p.D91_P97del0

c.271_291del21

1 paper

NM_004795.4

p.D91D

c.273T>C

1 paper

NM_004795.4

p.A73D

c.218C>A

1 paper

NM_004795.4

p.A73G

c.218C>G