Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.T406del1

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.T406del1
c.1216_1217delGGT
Surrounding Variants
1 paper
NM_000512.5
p.N407insFs
c.1220_1221insG
1 paper
NM_000512.5
p.N407K
c.1221C>G
1 paper
NM_000512.5
p.N407K
c.1221C>A
10 papers
NM_000512.5
p.N407H
c.1219A>C
3 papers
NM_000512.5
p.W405_T406del0
c.1213_1218del6
2 papers
NM_000512.5
p.T406_N407insFs
c.1218_1221dup4
1 paper
NM_000512.5
p.T406I
c.1217C>T
2 papers
NM_000512.5
p.S408delFs
c.1223delG
5 papers
NM_000512.5
p.W405*
c.1215G>A
4 papers
NM_000512.5
p.W409S
c.1226G>C
5 papers
NM_000512.5
p.W405*
c.1214G>A
1 paper
NM_000512.5
p.W409*
c.1226G>A
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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."