Varaico: Literature-Extracted Genetic Variants

Gene:LCTL
Variant:p.V256L

LCTL

40 papers

RefSeq Summary

This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of fam...

Pfam Domains

Glyco_hydro_1aa 33–503UCSCGlycosyl hydrolase family 1

Gene Aliases

HGNC Name

lactase like

HGNC Alias Symbols

KLPH; FLJ33279; KLG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_207338.4
p.V256L
c.766G>C
Surrounding Variants
2 papers
NM_207338.4
p.V256L
c.766G>T
1 paper
NM_207338.4
p.Q252H
c.756G>T
1 paper
NM_207338.4
p.Q252H
c.756G>C
1 paper
NM_207338.4
p.A296V
c.887C>T
1 paper
NM_207338.4
p.A240T
c.718G>A
2 papers
NM_207338.4
p.A229S
c.685G>T
2 papers
NM_207338.4
p.G225V
c.674G>T
1 paper
NM_207338.4
p.T212M
c.635C>T
1 paper
NM_207338.4
p.E207A
c.620A>C
1 paper
NM_207338.4
p.T198T
c.594G>A
1 paper
NM_207338.4
p.Q170E
c.508C>G
1 paper
NM_207338.4
p.L161fs
c.481_482fs
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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."