Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.N332S

KLB

111 papers

Pfam Domains

Glyco_hydro_1aa 77–382UCSCGlycosyl hydrolase family 1
Glyco_hydro_1aa 377–508UCSCGlycosyl hydrolase family 1
Glyco_hydro_1aa 517–967UCSCGlycosyl hydrolase family 1

Gene Aliases

HGNC Name

klotho beta

HGNC Alias Names

b-Klotho; beta-klotho; betaKlotho

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175737.4
p.N332S
c.995A>G
Surrounding Variants
1 paper
NM_175737.4
p.P333L
c.998C>T
1 paper
NM_175737.4
p.G338S
c.1012G>A
1 paper
NM_175737.4
p.D339G
c.1016A>G
1 paper
NM_175737.4
p.Y340Y
c.1020T>C
1 paper
NM_175737.4
p.Q321*
c.961C>T
1 paper
NM_175737.4
p.K346_K347insFs
c.1038_1039insTT
1 paper
NM_175737.4
p.K347insFs
c.1039_1040insT
1 paper
NM_175737.4
p.S350S
c.1050C>T
2 papers
NM_175737.4
p.V351I
c.1051G>A
1 paper
NM_175737.4
p.T313M
c.938C>T
1 paper
NM_175737.4
p.R309R
c.927G>T
3 papers
NM_175737.4
p.R309Q
c.926G>A
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