Varaico: Literature-Extracted Genetic Variants

Gene:HEXD
Variant:p.E94A

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
1 paper
NM_001330542.2
p.E94A
c.281A>C
Surrounding Variants
1 paper
NM_001330542.2
p.E94Q
c.280G>C
1 paper
NM_001330542.2
p.E94D
c.282G>C
1 paper
NM_001330542.2
p.E94D
c.282G>T
2 papers
NM_001330542.2
p.A63V
c.188C>T
1 paper
NM_001330542.2
p.P50S
c.148C>T
1 paper
NM_001330542.2
p.L41F
c.121C>T
1 paper
NM_001330542.2
p.A128P
c.382G>C
1 paper
NM_001330542.2
p.I130M
c.390T>G
2 papers
NM_001330542.2
p.I145V
c.433A>G
1 paper
NM_001330542.2
p.T170K
c.509C>A
1 paper
NM_001330542.2
p.G184S
c.550G>A
1 paper
NM_001330542.2
p.V185M
c.553G>A
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