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

2 papers

NM_004795.4

p.M1I

c.3G>A

Surrounding Variants

1 paper

NM_004795.4

p.M1I

c.3G>C

1 paper

NM_004795.4

p.M1I

c.3G>T

2 papers

NM_004795.4

p.P2S

c.4C>T

1 paper

NM_004795.4

p.M1insFs

c.2dupT

1 paper

NM_004795.4

p.A5A

c.15C>T

1 paper

NM_004795.4

p.P6T

c.16C>A

1 paper

NM_004795.4

p.P12_P13delFs

c.34_37del4

6 papers

NM_004795.4

p.P12A

c.34C>G

1 paper

NM_004795.4

p.P12Q

c.35C>A

1 paper

NM_004795.4

p.P13insFs

c.37_38insC

1 paper

NM_004795.4

p.P15delins

c.44delinsCGTCGCT

1 paper

NM_004795.4

p.L19L

c.55C>T