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

67 papers

NM_004795.4

p.C370S

c.1109G>C

Surrounding Variants

1 paper

NM_004795.4

p.C370C

c.1110C>T

67 papers

NM_004795.4

p.C370S

c.1108T>A

1 paper

NM_004795.4

p.G372_L375del4

c.1114_1124del12

1 paper

NM_004795.4

p.T374I

c.1121C>T

1 paper

NM_004795.4

p.L375fs

c.1123_1124fs

1 paper

NM_004795.4

p.L375S

c.1124T>C

1 paper

NM_004795.4

p.L375F

c.1125G>T

1 paper

NM_004795.4

p.K361*

c.1081A>T

2 papers

NM_004795.4

p.K385K

c.1155G>A

80 papers

NM_004795.4

p.F352V

c.1054T>G

1 paper

NM_004795.4

p.S391F

c.1172C>T

1 paper

NM_004795.4

p.I348fs

c.1042_1043fs