Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.Y384delFs

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.Y384delFs
c.1151_1152delAT
Surrounding Variants
1 paper
NM_000512.5
p.Y385F
c.1154A>T
2 papers
NM_000512.5
p.Y385*
c.1155C>G
3 papers
NM_000512.5
p.Y385*
c.1155C>A
91 papers
NM_000512.5
p.R386C
c.1156C>T
2 papers
NM_000512.5
p.R386S
c.1156C>A
12 papers
NM_000512.5
p.R386H
c.1157G>A
1 paper
NM_000512.5
p.F383delFs
c.1148delA
2 papers
NM_000512.5
p.G387S
c.1159G>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.I382V
c.1144A>G
3 papers
NM_000512.5
p.P381delFs
c.1142delG
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