Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.I265T

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
3 papers
NM_000512.5
p.I265T
c.794T>C
Surrounding Variants
1 paper
NM_000512.5
p.I265V
c.793A>G
1 paper
NM_000512.5
p.S264delFs
c.791delC
3 papers
NM_000512.5
p.S264T
c.791G>C
1 paper
NM_000512.5
p.D263delFs
c.789delG
1 paper
NM_000512.5
p.K267delFs
c.800delT
1 paper
NM_000512.5
p.D262V
c.785A>T
1 paper
NM_000512.5
p.L269insFs
c.805dupC
4 papers
NM_000512.5
p.I261T
c.782T>C
1 paper
NM_000512.5
p.L269P
c.806T>C
4 papers
NM_000512.5
p.E260D
c.780G>T
1 paper
NM_000512.5
p.E270*
c.808G>T
4 papers
NM_000512.5
p.E260D
c.780G>C
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