Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.K399fs

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.K399fs
c.1195_1196fs
Surrounding Variants
1 paper
NM_000512.5
p.K399R
c.1196A>G
1 paper
NM_000512.5
p.K399fs
c.1195_1196fs
4 papers
NM_000512.5
p.K399delFs
c.1195delT
1 paper
NM_000512.5
p.H398delFs
c.1192delG
1 paper
NM_000512.5
p.A400P
c.1198G>C
4 papers
NM_000512.5
p.A400T
c.1198G>A
1 paper
NM_000512.5
p.H398Y
c.1192C>T
4 papers
NM_000512.5
p.H398D
c.1192C>G
1 paper
NM_000512.5
p.H398fs
c.1192_1193fs
1 paper
NM_000512.5
p.Q397Q
c.1191G>A
2 papers
NM_000512.5
p.Q397fs
c.1189_1190fs
6 papers
NM_000512.5
p.H401Y
c.1201C>T
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