Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.V639_T640insFs

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.V639_T640insFs
c.1917_1918insCG
Surrounding Variants
1 paper
NM_175737.4
p.T640fs
c.1918_1919fs
1 paper
NM_175737.4
p.V639I
c.1915G>A
1 paper
NM_175737.4
p.M638fs
c.1912_1913fs
1 paper
NM_175737.4
p.R617P
c.1850G>C
2 papers
NM_175737.4
p.T609A
c.1825A>G
2 papers
NM_175737.4
p.V606V
c.1818C>T
1 paper
NM_175737.4
p.L601fs
c.1801_1802fs
1 paper
NM_175737.4
p.L601delFs
c.1801delC
1 paper
NM_175737.4
p.T690S
c.2068A>T
1 paper
NM_175737.4
p.T690S
c.2069C>G
1 paper
NM_175737.4
p.N692S
c.2075A>G
1 paper
NM_175737.4
p.F579S
c.1736T>C
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