Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.D344E

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
6 papers
NM_000512.5
p.D344E
c.1032C>A
Surrounding Variants
6 papers
NM_000512.5
p.D344E
c.1032C>G
1 paper
NM_000512.5
p.L345F
c.1033C>T
6 papers
NM_000512.5
p.L345P
c.1034T>C
7 papers
NM_000512.5
p.D344N
c.1030G>A
7 papers
NM_000512.5
p.M343R
c.1028T>G
9 papers
NM_000512.5
p.F346L
c.1036T>C
1 paper
NM_000512.5
p.F346C
c.1037T>G
3 papers
NM_000512.5
p.M343L
c.1027A>T
3 papers
NM_000512.5
p.M343L
c.1027A>C
9 papers
NM_000512.5
p.F346L
c.1038C>G
9 papers
NM_000512.5
p.F346L
c.1038C>A
1 paper
NM_000512.5
p.T347A
c.1039A>G
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