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.E34_D37del4

c.100_110del12

Surrounding Variants

1 paper

NM_004795.4

p.E34G

c.101A>G

1 paper

NM_004795.4

p.A33T

c.97G>A

1 paper

NM_004795.4

p.G38_W42delFs

c.112_124del13

1 paper

NM_004795.4

p.G38R

c.112G>C

1 paper

NM_004795.4

p.A39T

c.115G>A

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.W42R

c.124T>A

1 paper

NM_004795.4

p.W42R

c.124T>C

1 paper

NM_004795.4

p.L24Q

c.71T>A

1 paper

NM_004795.4

p.L23V

c.67C>G

1 paper

NM_004795.4

p.L23L

c.67C>T