Varaico: Literature-Extracted Genetic Variants

Gene:HEXD
Variant:p.M9R

HEXD

53 papers

Pfam Domains

Glyco_hydro_20aa 50–219UCSCGlycosyl hydrolase family 20, catalytic domain

Gene Aliases

HGNC Name

hexosaminidase D

HGNC Previous Symbol

HEXDC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001330542.2
p.M9R
c.26T>G
Surrounding Variants
1 paper
NM_001330542.2
p.T5T
c.15T>G
1 paper
NM_001330542.2
p.G3G
c.9T>G
1 paper
NM_001330542.2
p.G3S
c.7G>A
1 paper
NM_001330542.2
p.M1T
c.2T>C
1 paper
NM_001330542.2
p.L41F
c.121C>T
1 paper
NM_001330542.2
p.P50S
c.148C>T
2 papers
NM_001330542.2
p.A63V
c.188C>T
1 paper
NM_001330542.2
p.E94Q
c.280G>C
1 paper
NM_001330542.2
p.E94A
c.281A>C
1 paper
NM_001330542.2
p.E94D
c.282G>C
1 paper
NM_001330542.2
p.E94D
c.282G>T
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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."