Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.G44V

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.G44V
c.131G>T
Surrounding Variants
1 paper
NM_000512.5
p.G44delFs
c.132delA
3 papers
NM_000512.5
p.D45G
c.134A>G
4 papers
NM_000512.5
p.G42E
c.125G>A
1 paper
NM_000512.5
p.G42*
c.124G>T
19 papers
NM_000512.5
p.G47R
c.139G>C
20 papers
NM_000512.5
p.G47R
c.139G>A
5 papers
NM_000512.5
p.M41K
c.122T>A
1 paper
NM_000512.5
p.G47G
c.141G>C
1 paper
NM_000512.5
p.M41fs
c.121_122fs
12 papers
NM_000512.5
p.M41L
c.121A>T
10 papers
NM_000512.5
p.M41L
c.121A>C
5 papers
NM_000512.5
p.D40_M41Splc
c.121-1G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."