Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.L395P

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
5 papers
NM_000512.5
p.L395P
c.1184T>C
Surrounding Variants
4 papers
NM_000512.5
p.L395V
c.1183C>G
2 papers
NM_000512.5
p.G396R
c.1186G>C
2 papers
NM_000512.5
p.G396R
c.1186G>A
5 papers
NM_000512.5
p.T394P
c.1180A>C
1 paper
NM_000512.5
p.A393del1
c.1177_1178delGGC
2 papers
NM_000512.5
p.Q397fs
c.1189_1190fs
1 paper
NM_000512.5
p.Q397E
c.1189C>G
4 papers
NM_000512.5
p.G396delFs
c.1188delC
4 papers
NM_000512.5
p.A392_A393del1
c.1176_1178delGCC
1 paper
NM_000512.5
p.A393G
c.1178C>G
1 paper
NM_000512.5
p.A393insFs
c.1178_1179insT
19 papers
NM_000512.5
p.A393S
c.1177G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."