Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.D388E

GALNS

440 papers

RefSeq Summary

This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alter...

Pfam Domains

Sulfataseaa 31–355UCSCSulfatase
Sulfatase_Caa 378–509UCSCC-terminal region of aryl-sulfatase

Gene Aliases

HGNC Name

galactosamine (N-acetyl)-6-sulfatase

HGNC Alias Symbols

GALNAC6S; GalN6S

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000512.5
p.D388E
c.1164C>G
Surrounding Variants
1 paper
NM_000512.5
p.D388E
c.1164C>A
1 paper
NM_000512.5
p.D388Y
c.1162G>T
6 papers
NM_000512.5
p.D388N
c.1162G>A
1 paper
NM_000512.5
p.L390R
c.1169T>G
5 papers
NM_000512.5
p.L390P
c.1169T>C
7 papers
NM_000512.5
p.L390delFs
c.1168delG
2 papers
NM_000512.5
p.G387S
c.1159G>A
12 papers
NM_000512.5
p.R386H
c.1157G>A
23 papers
NM_000512.5
p.M391V
c.1171A>G
1 paper
NM_000512.5
p.M391insFs
c.1172_1173insC
91 papers
NM_000512.5
p.R386C
c.1156C>T
2 papers
NM_000512.5
p.R386S
c.1156C>A
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