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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GM2A

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 92 variants

12 papers

chr5:151266899 T>C

NM_000405.5

p.C138R

c.412T>C

E1_DerP2_DerF2

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)42 overlapping SVs

11 papers

chr5:151259837 C>T

NM_000405.5

p.P55L

c.164C>T

E1_DerP2_DerF2

Exome: 0.0% (AC=4, hom=0)Genome: n/a42 overlapping SVs

11 papers

chr5:151267375 G>C

NM_000405.5

p.R169P

c.506G>C

E1_DerP2_DerF2

exact variant not in gnomAD42 overlapping SVs

6 papers

chr5:151259848 A>G

NM_000405.5

p.I59V

c.175A>G

E1_DerP2_DerF2

Exome: 63.5% (AC=925008, hom=296046)Genome: 62.9% (AC=95729, hom=30424)42 overlapping SVs

6 papers

chr5:151259878 A>G

NM_000405.5

p.M69V

c.205A>G

E1_DerP2_DerF2

Exome: 69.0% (AC=1005802, hom=353913)Genome: 74.7% (AC=113568, hom=43324)42 overlapping SVs

5 papers

chr5:151253294 A>C

NM_000405.5

p.K26N

c.78A>C

exact variant not in gnomAD43 overlapping SVs

5 papers

chr5:151253294 A>T

NM_000405.5

p.K26N

c.78A>T

Exome: 0.0% (AC=218, hom=0)Genome: 0.0% (AC=27, hom=0)43 overlapping SVs

5 papers

chr5:151259833 G>T

NM_000405.5

p.E54*

c.160G>T

E1_DerP2_DerF2

exact variant not in gnomAD42 overlapping SVs

5 papers

chr5:151267327 T>C

NM_000405.5

p.V153A

c.458T>C

E1_DerP2_DerF2

Exome: 9.0% (AC=131347, hom=6482)Genome: 7.2% (AC=10906, hom=503)42 overlapping SVs

4 papers

chr5:151266746 G>T

NM_000405.5

p.E87*

c.259G>T

E1_DerP2_DerF2

Exome: 0.0% (AC=4, hom=0)Genome: n/a42 overlapping SVs

4 papers

chr5:151266902 C>T

NM_000405.5

p.P139S

c.415C>T

E1_DerP2_DerF2

Exome: 0.0% (AC=3, hom=0)Genome: n/a42 overlapping SVs

4 papers

chr5:151267386 G>A

NM_000405.5

p.V173I

c.517G>A

E1_DerP2_DerF2

Exome: 0.0% (AC=80, hom=0)Genome: 0.0% (AC=11, hom=0)42 overlapping SVs

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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."