Varaico: Literature-Extracted Genetic Variants

Gene:GM2A
Variant:p.E158*

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
3 papers
NM_000405.5
p.E158*
c.472G>T
Surrounding Variants
1 paper
NM_000405.5
p.E158K
c.472G>A
1 paper
NM_000405.5
p.E158_L159del2
c.472_476del6
5 papers
NM_000405.5
p.V153A
c.458T>C
1 paper
NM_000405.5
p.G166R
c.496G>A
1 paper
NM_000405.5
p.G166R
c.496G>C
1 paper
NM_000405.5
p.P148S
c.442C>T
1 paper
NM_000405.5
p.R169H
c.506G>A
11 papers
NM_000405.5
p.R169P
c.506G>C
4 papers
NM_000405.5
p.V173I
c.517G>A
2 papers
NM_000405.5
p.L174R
c.521T>G
1 paper
NM_000405.5
p.G178E
c.533G>A
1 paper
NM_000405.5
p.R180C
c.538C>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."