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.A50T

c.148G>A

Surrounding Variants

1 paper

NM_004795.4

p.A50D

c.149C>A

1 paper

NM_004795.4

p.P48R

c.143C>G

1 paper

NM_004795.4

p.E52Q

c.154G>C

1 paper

NM_004795.4

p.R47insFs

c.140_141ins4

1 paper

NM_004795.4

p.A54V

c.161C>T

1 paper

NM_004795.4

p.L56I

c.166C>A

1 paper

NM_004795.4

p.Q58fs

c.172_173fs

1 paper

NM_004795.4

p.W42R

c.124T>A

1 paper

NM_004795.4

p.W42R

c.124T>C

1 paper

NM_004795.4

p.Q40E

c.118C>G

1 paper

NM_004795.4

p.Q40*

c.118C>T

1 paper

NM_004795.4

p.A39T

c.115G>A