Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.F69C

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
2 papers
NM_000512.5
p.F69C
c.206T>G
Surrounding Variants
6 papers
NM_000512.5
p.F69V
c.205T>G
1 paper
NM_000512.5
p.F69delFs
c.206delA
1 paper
NM_000512.5
p.F69fs
c.205_206fs
1 paper
NM_000512.5
p.P70S
c.208C>T
1 paper
NM_000512.5
p.P70Q
c.209C>A
1 paper
NM_000512.5
p.L67P
c.200T>C
9 papers
NM_000512.5
p.L67M
c.199C>A
1 paper
NM_000512.5
p.F72I
c.214T>A
1 paper
NM_000512.5
p.F72S
c.215T>C
1 paper
NM_000512.5
p.N71_F72delFs
c.211_214del4
11 papers
NM_000512.5
p.G66R
c.196G>C
11 papers
NM_000512.5
p.G66R
c.196G>A
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