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.L495insFs

c.1484_1485insG

Surrounding Variants

1 paper

NM_004795.4

p.S493T

c.1477T>A

2 papers

NM_004795.4

p.Q498R

c.1493A>G

1 paper

NM_004795.4

p.S492T

c.1474T>A

1 paper

NM_004795.4

p.S492delFs

c.1474delT

1 paper

NM_004795.4

p.P510delFs

c.1528_1529delCC

3 papers

NM_004795.4

p.P514S

c.1540C>T

1 paper

NM_004795.4

p.P514L

c.1541C>T

1 paper

NM_004795.4

p.G475_L476delFs

c.1425_1426delAC

1 paper

NM_004795.4

p.R474H

c.1421G>A

1 paper

NM_004795.4

p.H467N

c.1399C>A

1 paper

NM_004795.4

p.F464F

c.1392C>T

1 paper

NM_004795.4

p.V527del1

c.1579_1581delGTT