Varaico: Literature-Extracted Genetic Variants

Gene:GM2A
Variant:p.L53fs

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.L53fs
c.157_158fs
Surrounding Variants
1 paper
NM_000405.5
p.L53delFs
c.158_159delTG
1 paper
NM_000405.5
p.E54Q
c.160G>C
5 papers
NM_000405.5
p.E54*
c.160G>T
11 papers
NM_000405.5
p.P55L
c.164C>T
2 papers
NM_000405.5
p.S50_L51insT
c.148_152ins3
2 papers
NM_000405.5
p.S50_P55del6
c.148_164del18
1 paper
NM_000405.5
p.I58T
c.173T>C
6 papers
NM_000405.5
p.I59V
c.175A>G
1 paper
NM_000405.5
p.I59T
c.176T>C
1 paper
NM_000405.5
p.V60I
c.178G>A
1 paper
NM_000405.5
p.V60F
c.178G>T
1 paper
NM_000405.5
p.K43delFs
c.128_129delAG
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