Varaico: Literature-Extracted Genetic Variants

Gene:HEXD
Variant:p.I130M

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.I130M
c.390T>G
Surrounding Variants
1 paper
NM_001330542.2
p.A128P
c.382G>C
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
1 paper
NM_001330542.2
p.R188Q
c.563G>A
1 paper
NM_001330542.2
p.V192L
c.574G>C
1 paper
NM_001330542.2
p.V192L
c.574G>T
1 paper
NM_001330542.2
p.V196M
c.586G>A
1 paper
NM_001330542.2
p.Q208L
c.623A>T
1 paper
NM_001330542.2
p.L222I
c.664C>A
1 paper
NM_001330542.2
p.Q248L
c.743A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."