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.L394P

c.1181T>C

Surrounding Variants

1 paper

NM_004795.4

p.L394_R395insFs

c.1182_1183insT

1 paper

NM_004795.4

p.S391F

c.1172C>T

3 papers

NM_004795.4

p.D402N

c.1204G>A

1 paper

NM_004795.4

p.D402D

c.1206C>T

2 papers

NM_004795.4

p.K385K

c.1155G>A

1 paper

NM_004795.4

p.E404K

c.1210G>A

1 paper

NM_004795.4

p.E404A

c.1211A>C

1 paper

NM_004795.4

p.V413L

c.1237G>C

1 paper

NM_004795.4

p.L375F

c.1125G>T

1 paper

NM_004795.4

p.V413L

c.1237G>T

1 paper

NM_004795.4

p.L375S

c.1124T>C

1 paper

NM_004795.4

p.L375fs

c.1123_1124fs