Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.A393insFs

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
2 papers
NM_000512.5
p.A393insFs
c.1177_1178insT
Surrounding Variants
19 papers
NM_000512.5
p.A393S
c.1177G>T
1 paper
NM_000512.5
p.A393fs
c.1177_1178fs
1 paper
NM_000512.5
p.A392A
c.1176G>A
1 paper
NM_000512.5
p.A393G
c.1178C>G
1 paper
NM_000512.5
p.A393insFs
c.1178_1179insT
12 papers
NM_000512.5
p.A392V
c.1175C>T
1 paper
NM_000512.5
p.M391delFs
c.1173delC
4 papers
NM_000512.5
p.A392_A393del1
c.1176_1178delGCC
1 paper
NM_000512.5
p.M391_A392ins3
c.1173_1174ins9
5 papers
NM_000512.5
p.T394P
c.1180A>C
1 paper
NM_000512.5
p.A393del1
c.1177_1178delGGC
1 paper
NM_000512.5
p.M391I
c.1173G>T
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