Varaico: Literature-Extracted Genetic Variants

Gene:GM2A
Variant:p.M117V

GM2A

94 papers

RefSeq Summary

This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside...

Pfam Domains

E1_DerP2_DerF2aa 33–190UCSCML domain

Gene Aliases

HGNC Name

ganglioside GM2 activator

HGNC Alias Symbols

SAP-3; GM2-AP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000405.5
p.M117V
c.349A>G
Surrounding Variants
1 paper
NM_000405.5
p.M117I
c.351G>A
1 paper
NM_000405.5
p.M117I
c.351G>C
1 paper
NM_000405.5
p.M117I
c.351G>T
1 paper
NM_000405.5
p.D113A
c.338A>C
1 paper
NM_000405.5
p.D113Y
c.337G>T
1 paper
NM_000405.5
p.G122R
c.364G>A
1 paper
NM_000405.5
p.G122R
c.364G>C
1 paper
NM_000405.5
p.C112fs
c.334_335fs
3 papers
NM_000405.5
p.C112fs
c.334_335fs
2 papers
NM_000405.5
p.F111delFs
c.333delC
1 paper
NM_000405.5
p.E123K
c.367G>A
1 paper
NM_000405.5
p.E123A
c.368A>C
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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."