Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.P52_E55del0

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.P52_E55del0
c.154_165del12
Surrounding Variants
1 paper
NM_000512.5
p.T56N
c.167C>A
1 paper
NM_000512.5
p.P57S
c.169C>T
1 paper
NM_000512.5
p.P57L
c.170C>T
1 paper
NM_001323544.2
p.P63R
c.188C>G
1 paper
NM_000512.5
p.R54delFs
c.161delC
1 paper
NM_000512.5
p.R54I
c.161G>T
4 papers
NM_000512.5
p.S53F
c.158C>T
1 paper
NM_000512.5
p.G47_N58del12
c.139_173del36
1 paper
NM_000512.5
p.P52delFs
c.155delG
1 paper
NM_000512.5
p.N58_L59insFs
c.172_175dup4
1 paper
NM_000512.5
p.P52P
c.156C>A
1 paper
NM_000512.5
p.L59L
c.177G>A
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