Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.W403_T404delins

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
4 papers
NM_000512.5
p.W403_T404delins
c.1209_1210delinsTT
Surrounding Variants
1 paper
NM_000512.5
p.T404S
c.1210A>T
2 papers
NM_000512.5
p.W403C
c.1209G>T
1 paper
NM_000512.5
p.W403C
c.1209G>C
1 paper
NM_000512.5
p.T404S
c.1211C>G
5 papers
NM_000512.5
p.W405*
c.1214G>A
5 papers
NM_000512.5
p.W405*
c.1215G>A
1 paper
NM_000512.5
p.T406I
c.1217C>T
6 papers
NM_000512.5
p.H401Y
c.1201C>T
10 papers
NM_000512.5
p.N407H
c.1219A>C
3 papers
NM_000512.5
p.W405_T406del0
c.1213_1218del6
1 paper
NM_000512.5
p.N407insFs
c.1220_1221insG
1 paper
NM_000512.5
p.T406del1
c.1216_1217delGGT
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."