Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.Y880S

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.Y880S
c.2639A>C
Surrounding Variants
1 paper
NM_175737.4
p.A896S
c.2686G>T
1 paper
NM_175737.4
p.A863V
c.2588C>T
1 paper
NM_175737.4
p.Y906H
c.2716T>C
2 papers
NM_175737.4
p.G908V
c.2723G>T
5 papers
NM_175737.4
p.K815E
c.2443A>G
1 paper
NM_175737.4
p.R796W
c.2386C>T
3 papers
NM_175737.4
p.F777del1
c.2329_2330delTTC
1 paper
NM_175737.4
p.L776_F777del2
c.2326_2330del6
1 paper
NM_175737.4
p.E774K
c.2320G>A
1 paper
NM_175737.4
p.Y753C
c.2258A>G
1 paper
NM_175737.4
p.A747V
c.2240C>T
1 paper
NM_175737.4
p.P732L
c.2195C>T
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