Varaico: Literature-Extracted Genetic Variants

Gene:GM2A
Variant:p.P139S

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
4 papers
NM_000405.5
p.P139S
c.415C>T
Surrounding Variants
12 papers
NM_000405.5
p.C138R
c.412T>C
1 paper
NM_000405.5
p.H137fs
c.409_410fs
1 paper
NM_000405.5
p.H137delFs
c.410delA
1 paper
NM_000405.5
p.H137fs
c.409_410fs
1 paper
NM_000405.5
p.C136*
c.408C>A
1 paper
NM_000405.5
p.R130C
c.388C>T
1 paper
NM_000405.5
p.P128_L129del2
c.382_386del6
1 paper
NM_000405.5
p.P126A
c.376C>G
1 paper
NM_000405.5
p.P124fs
c.370_371fs
1 paper
NM_000405.5
p.E123_P124Fs
c.369_371delinsATTAAFs
1 paper
NM_000405.5
p.E123_P124delins
c.369_371delinsTAA
1 paper
NM_000405.5
p.E123A
c.368A>C
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