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.H96H

c.288C>T

Surrounding Variants

2 papers

NM_004795.4

p.H96delFs

c.288delC

1 paper

NM_004795.4

p.H96Y

c.286C>T

1 paper

NM_004795.4

p.L98insFs

c.293_294insC

1 paper

NM_004795.4

p.A99_P100ins6

c.295_299ins18

1 paper

NM_004795.4

p.A99A

c.297A>T

1 paper

NM_004795.4

p.G102_P110del9

c.304_329del27

1 paper

NM_004795.4

p.D91D

c.273T>C

1 paper

NM_004795.4

p.G102_D103insFs

c.306_307insT

1 paper

NM_004795.4

p.D91_P97del0

c.271_291del21

1 paper

NM_004795.4

p.S104A

c.310T>G

1 paper

NM_004795.4

p.S108I

c.323G>T

1 paper

NM_004795.4

p.G84delFs

c.252delC