Varaico: Literature-Extracted Genetic Variants

Gene:LCTL
Variant:p.S26S

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
1 paper
NM_207338.4
p.S26S
c.78C>A
Surrounding Variants
2 papers
NM_207338.4
p.S31P
c.91T>C
1 paper
NM_207338.4
p.R18K
c.53G>A
1 paper
NM_207338.4
p.A49T
c.145G>A
2 papers
NM_207338.4
p.T52M
c.155C>T
2 papers
NM_207338.4
p.D67N
c.199G>A
1 paper
NM_207338.4
p.G79G
c.237G>T
1 paper
NM_207338.4
p.L103P
c.308T>C
1 paper
NM_207338.4
p.R116Q
c.347G>A
1 paper
NM_207338.4
p.R116_L118del0
c.346_354del9
1 paper
NM_207338.4
p.D140H
c.418G>C
1 paper
NM_207338.4
p.L161fs
c.481_482fs
1 paper
NM_207338.4
p.Q170E
c.508C>G
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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."