Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.I382V

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.I382V
c.1144A>G
Surrounding Variants
3 papers
NM_000512.5
p.P381delFs
c.1142delG
3 papers
NM_000512.5
p.P381R
c.1142C>G
1 paper
NM_000512.5
p.P381fs
c.1141_1142fs
8 papers
NM_000512.5
p.R380S
c.1140G>T
8 papers
NM_000512.5
p.R380S
c.1140G>C
4 papers
NM_000512.5
p.R380T
c.1139G>C
1 paper
NM_000512.5
p.R380Splc
c.1140-1G>A
1 paper
NM_000512.5
p.F383delFs
c.1148delA
3 papers
NM_000512.5
p.R380G
c.1138A>G
1 paper
NM_001323544.2
p.R386Splc
c.1158-3C>G
1 paper
NM_000512.5
p.Y384delFs
c.1151_1152delAT
1 paper
NM_000512.5
p.Y385F
c.1154A>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."