Varaico: Literature-Extracted Genetic Variants

Gene:GM2A
Variant:p.L15F

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.L15F
c.45G>C
Surrounding Variants
1 paper
NM_000405.5
p.L15F
c.45G>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.A12V
c.35C>T
2 papers
NM_000405.5
p.A19T
c.55G>A
1 paper
NM_000405.5
p.A19S
c.55G>T
1 paper
NM_000405.5
p.A12S
c.34G>T
1 paper
NM_000405.5
p.P8R
c.23C>G
1 paper
NM_000405.5
p.P8insFs
c.23dupC
1 paper
NM_000405.5
p.M5T
c.14T>C
1 paper
NM_000405.5
p.M5L
c.13A>C
1 paper
NM_000405.5
p.M5L
c.13A>T
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