Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.Q414R

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.Q414R
c.1241A>G
Surrounding Variants
2 papers
NM_000512.5
p.Q414insFs
c.1241_1242insA
1 paper
NM_000512.5
p.Q414Q
c.1242G>A
7 papers
NM_000512.5
p.Q414*
c.1240C>T
1 paper
NM_000512.5
p.Q414_G415Splc
c.1242+1G>A
1 paper
NM_000512.5
p.N411_F412insFs
c.1233_1234insT
1 paper
NM_000512.5
p.N411insFs
c.1232_1233insT
1 paper
NM_000512.5
p.W409*
c.1227G>A
4 papers
NM_000512.5
p.W409S
c.1226G>C
1 paper
NM_000512.5
p.W409*
c.1226G>A
2 papers
NM_000512.5
p.S408delFs
c.1223delG
2 papers
NM_000512.5
p.T406_N407insFs
c.1218_1221dup4
1 paper
NM_000512.5
p.N407K
c.1221C>G
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