Varaico: Literature-Extracted Genetic Variants

Gene:GALNTL5
Variant:p.R419P

GALNTL5

56 papers

Pfam Domains

Glycos_transf_2aa 137–323UCSCGlycosyl transferase family 2

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase like 5

HGNC Alias Symbol

GalNAc-T5L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145292.4
p.R419P
c.1256G>C
Surrounding Variants
2 papers
NM_145292.4
p.R419*
c.1255C>T
1 paper
NM_145292.4
p.V414fs
c.1240_1241fs
1 paper
NM_145292.4
p.E435D
c.1305G>C
1 paper
NM_145292.4
p.E435D
c.1305G>T
1 paper
NM_145292.4
p.E390*
c.1168G>T
1 paper
NM_145292.4
p.D389V
c.1166A>T
1 paper
NM_145292.4
p.T366S
c.1097C>G
1 paper
NM_145292.4
p.T366S
c.1096A>T
1 paper
NM_145292.4
p.G359fs
c.1075_1076fs
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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."