Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.P110R

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.P110R
c.329C>G
Surrounding Variants
1 paper
NM_000512.5
p.P110L
c.329C>T
9 papers
NM_000512.5
p.Q111*
c.331C>T
2 papers
NM_000512.5
p.T109I
c.326C>T
1 paper
NM_000512.5
p.Q111L
c.332A>T
6 papers
NM_000512.5
p.Q111R
c.332A>G
1 paper
NM_000512.5
p.T109A
c.325A>G
1 paper
NM_000512.5
p.Y108del1
c.322_323delGTA
1 paper
NM_000512.5
p.E112fs
c.334_335fs
1 paper
NM_000512.5
p.Y108Y
c.324C>T
1 paper
NM_000512.5
p.Y108C
c.323A>G
1 paper
NM_000512.5
p.Y108S
c.323A>C
1 paper
NM_000512.5
p.Y108delFs
c.322delA
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