Varaico: Literature-Extracted Genetic Variants

Gene:GM2A
Variant:p.K26N

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
5 papers
NM_000405.5
p.K26N
c.78A>T
Surrounding Variants
5 papers
NM_000405.5
p.K26N
c.78A>C
1 paper
NM_000405.5
p.K27E
c.79A>G
3 papers
NM_000405.5
p.K27*
c.79A>T
2 papers
NM_000405.5
p.A19T
c.55G>A
1 paper
NM_000405.5
p.A19S
c.55G>T
2 papers
NM_000405.5
p.L17insFs
c.50_51insT
2 papers
NM_000405.5
p.L17_A19del0
c.50_55del6
1 paper
NM_000405.5
p.L15F
c.45G>C
1 paper
NM_000405.5
p.L15F
c.45G>T
1 paper
NM_000405.5
p.A12V
c.35C>T
1 paper
NM_000405.5
p.A12S
c.34G>T
1 paper
NM_000405.5
p.P8R
c.23C>G
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."