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.L66F

c.196C>T

Surrounding Variants

1 paper

NM_004795.4

p.L66R

c.197T>G

1 paper

NM_004795.4

p.A68_G70del3

c.202_209del9

1 paper

NM_004795.4

p.A68T

c.202G>A

1 paper

NM_004795.4

p.D63N

c.187G>A

1 paper

NM_004795.4

p.G70C

c.208G>T

1 paper

NM_004795.4

p.G70D

c.209G>A

1 paper

NM_004795.4

p.A73P

c.217G>C

1 paper

NM_004795.4

p.A73D

c.218C>A

1 paper

NM_004795.4

p.A73G

c.218C>G

1 paper

NM_004795.4

p.Q58fs

c.172_173fs

1 paper

NM_004795.4

p.T76_E77delFs

c.226_230del5

1 paper

NM_004795.4

p.T76delFs

c.228delC