Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.S349I

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.S349I
c.1046G>T
Surrounding Variants
1 paper
NM_000512.5
p.S349N
c.1046G>A
4 papers
NM_000512.5
p.S349delFs
c.1046delC
1 paper
NM_000512.5
p.S349fs
c.1045_1046fs
2 papers
NM_000512.5
p.L350P
c.1049T>C
5 papers
NM_000512.5
p.T348N
c.1043C>A
2 papers
NM_000512.5
p.T348A
c.1042A>G
1 paper
NM_000512.5
p.T347delFs
c.1041delG
8 papers
NM_000512.5
p.A351V
c.1052C>T
1 paper
NM_000512.5
p.T347insFs
c.1040_1041insT
1 paper
NM_000512.5
p.T347A
c.1039A>G
9 papers
NM_000512.5
p.F346L
c.1038C>G
9 papers
NM_000512.5
p.F346L
c.1038C>A
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