Varaico: Literature-Extracted Genetic Variants

Gene:KLB

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
1–12 of 124 variants
14 papers
NM_175737.4
p.R728Q
c.2183G>A
5 papers
NM_175737.4
p.K815E
c.2443A>G
5 papers
NM_175737.4
p.Q1020K
c.3058C>A
4 papers
NM_175737.4
p.L1011P
c.3032T>C
4 papers
NM_175737.4
p.V1042I
c.3124G>A
3 papers
NM_175737.4
p.R309Q
c.926G>A
3 papers
NM_175737.4
p.F777del1
c.2329_2330delTTC
2 papers
NM_175737.4
p.G106E
c.317G>A
2 papers
NM_175737.4
p.F159insFs
c.477dupC
2 papers
NM_175737.4
p.D161fs
c.481_482fs
2 papers
NM_175737.4
p.A169T
c.505G>A
2 papers
NM_175737.4
p.G261E
c.782G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."