Varaico: Literature-Extracted Genetic Variants

Gene:LCTL
Variant:p.Q358delFs

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.Q358delFs
c.1073delT
Surrounding Variants
1 paper
NM_207338.4
p.Q358fs
c.1072_1073fs
1 paper
NM_207338.4
p.T346_Y354del9
c.1036_1061del27
1 paper
NM_207338.4
p.E370E
c.1110G>A
2 papers
NM_207338.4
p.L371L
c.1113G>A
1 paper
NM_207338.4
p.G340R
c.1018G>C
1 paper
NM_207338.4
p.G340R
c.1018G>A
1 paper
NM_207338.4
p.L339L
c.1017G>A
1 paper
NM_207338.4
p.E313Q
c.937G>C
1 paper
NM_207338.4
p.K433T
c.1298A>C
1 paper
NM_207338.4
p.N437K
c.1311T>G
NM_001278562.3
p.N264K
c.792T>G
1 paper
NM_001278562.3
p.N264K
c.792T>A
NM_207338.4
p.N437K
c.1311T>A
1 paper
NM_207338.4
p.K450*
c.1348A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."