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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAL3ST4

Variant:p.R120C

GAL3ST4

43 papers

RefSeq Summary

This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in ...

Pfam Domains

Gal-3-0_sulfotraa 7–231UCSCGalactose-3-O-sulfotransferase

Gal-3-0_sulfotraa 277–469UCSCGalactose-3-O-sulfotransferase

Gene Aliases

HGNC Name

galactose-3-O-sulfotransferase 4

HGNC Alias Symbol

FLJ12116

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr7:100166573 G>A

NM_024637.5

p.R120C

c.358C>T

Gal-3-0_sulfotr

Exome: 0.1% (AC=2061, hom=4)Genome: 0.1% (AC=154, hom=0)97 overlapping SVs

Surrounding Variants

1 paper

chr7:100166570 G>T

NM_024637.5

p.P121T

c.361C>A

Gal-3-0_sulfotr

exact variant not in gnomAD97 overlapping SVs

5 papers

chr7:100166617 A>G

NM_024637.5

p.F105S

c.314T>C

Gal-3-0_sulfotr

Exome: 0.4% (AC=5563, hom=12)Genome: 0.2% (AC=320, hom=1)97 overlapping SVs

1 paper

chr7:100166627 G>A

NM_024637.5

p.R102C

c.304C>T

Gal-3-0_sulfotr

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=7, hom=0)97 overlapping SVs

1 paper

chr7:100166743 C>A

NM_024637.5

p.C63F

c.188G>T

Gal-3-0_sulfotr

exact variant not in gnomAD97 overlapping SVs

1 paper

chr7:100166749 G>T

NM_024637.5

p.P61Q

c.182C>A

Gal-3-0_sulfotr

Exome: 0.0% (AC=132, hom=0)Genome: 0.0% (AC=3, hom=0)97 overlapping SVs

1 paper

chr7:100166775 C>T

NM_024637.5

p.S52S

c.156G>A

Gal-3-0_sulfotr

Exome: 0.0% (AC=100, hom=1)Genome: 0.0% (AC=28, hom=0)97 overlapping SVs

1 paper

chr7:100166776 G>A

NM_024637.5

p.S52L

c.155C>T

Gal-3-0_sulfotr

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=3, hom=0)97 overlapping SVs

1 paper

chr7:100166800 G>T

NM_024637.5

p.P44H

c.131C>A

Gal-3-0_sulfotr

exact variant not in gnomAD97 overlapping SVs

3 papers

chr7:100167065 G>A

NM_024637.5

p.R11W

c.31C>T

Gal-3-0_sulfotr

Exome: 0.0% (AC=31, hom=0)Genome: n/a97 overlapping SVs

1 paper

chr7:100167070 G>A

NM_024637.5

p.T9M

c.26C>T

Gal-3-0_sulfotr

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=4, hom=0)97 overlapping SVs

1 paper

chr7:100160854 A>G

NM_024637.5

p.F179L

c.535T>C

Gal-3-0_sulfotr

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=4, hom=0)99 overlapping SVs

1 paper

chr7:100160852 G>C

NM_024637.5

p.F179L

c.537C>G

Gal-3-0_sulfotr

exact variant not in gnomAD99 overlapping SVs

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