Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.M378I

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.M378I
c.1134G>A
Surrounding Variants
1 paper
NM_000512.5
p.M378I
c.1134G>T
1 paper
NM_000512.5
p.M378I
c.1134G>C
1 paper
NM_000512.5
p.D379N
c.1135G>A
1 paper
NM_000512.5
p.L377delFs
c.1129delG
3 papers
NM_000512.5
p.R380G
c.1138A>G
1 paper
NM_000512.5
p.R380insFs
c.1138_1139ins5
3 papers
NM_000512.5
p.R380T
c.1139G>C
1 paper
NM_000512.5
p.L377L
c.1129C>T
2 papers
NM_000512.5
p.R380Splc
c.1139+1G>A
1 paper
NM_000512.5
p.R380Splc
c.1139+2T>C
20 papers
NM_000512.5
p.R376Q
c.1127G>A
1 paper
NM_000512.5
p.G375C
c.1123G>T
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