Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.G47R

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
20 papers
NM_000512.5
p.G47R
c.139G>A
Surrounding Variants
19 papers
NM_000512.5
p.G47R
c.139G>C
1 paper
NM_000512.5
p.G47G
c.141G>C
1 paper
NM_000512.5
p.V48M
c.142G>A
9 papers
NM_000512.5
p.V48G
c.143T>G
1 paper
NM_000512.5
p.V48A
c.143T>C
3 papers
NM_000512.5
p.D45G
c.134A>G
1 paper
NM_000512.5
p.W43_L46delFs
c.128_138del11
1 paper
NM_000512.5
p.Y49fs
c.145_146fs
1 paper
NM_000512.5
p.G44delFs
c.132delA
5 papers
NM_000512.5
p.G44V
c.131G>T
3 papers
NM_000512.5
p.G50R
c.148G>C
3 papers
NM_000512.5
p.G50R
c.148G>A
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