Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.K387delFs

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.K387delFs
c.1161delA
Surrounding Variants
1 paper
NM_175737.4
p.L394P
c.1181T>C
1 paper
NM_175737.4
p.R397K
c.1190G>A
1 paper
NM_175737.4
p.L400L
c.1200G>A
1 paper
NM_175737.4
p.N401fs
c.1201_1202fs
1 paper
NM_175737.4
p.R364K
c.1091G>A
2 papers
NM_175737.4
p.V351I
c.1051G>A
1 paper
NM_175737.4
p.S350S
c.1050C>T
2 papers
NM_175737.4
p.R424C
c.1270C>T
1 paper
NM_175737.4
p.K347insFs
c.1039_1040insT
1 paper
NM_175737.4
p.K346_K347insFs
c.1038_1039insTT
1 paper
NM_175737.4
p.E428delFs
c.1282delG
1 paper
NM_175737.4
p.E428fs
c.1282_1283fs
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