Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.S74P

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.S74P
c.220T>C
Surrounding Variants
4 papers
NM_000512.5
p.S74F
c.221C>T
2 papers
NM_000512.5
p.P70_S74del0
c.210_221del12
7 papers
NM_000512.5
p.Y73C
c.218A>G
1 paper
NM_000512.5
p.F72F
c.216C>T
5 papers
NM_000512.5
p.A75G
c.224C>G
1 paper
NM_000512.5
p.F72S
c.215T>C
1 paper
NM_000512.5
p.N71_F72delFs
c.211_214del4
1 paper
NM_000512.5
p.F72I
c.214T>A
2 papers
NM_000512.5
p.N76H
c.226A>C
1 paper
NM_000512.5
p.S74_A75delFs
c.221_224del4
3 papers
NM_000512.5
p.N76K
c.228C>G
3 papers
NM_000512.5
p.N76K
c.228C>A
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