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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC2A9

SLC2A9

230 papers

RefSeq Summary

This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role ...

Pfam Domains

Sugar_traa 59–514UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 2 member 9

HGNC Alias Symbols

Glut9; GLUTX; URATv1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 349 variants

23 papers

chr4:9890687 G>A

NM_020041.3

p.R380W

c.1138C>T

Sugar_tr

Exome: 0.0% (AC=166, hom=2)Genome: 0.0% (AC=9, hom=0)37 overlapping SVs

22 papers

chr4:9920543 C>T

NM_020041.3

p.V282I

c.844G>A

Sugar_tr

Exome: 22.4% (AC=327053, hom=39537)Genome: 28.2% (AC=42983, hom=6967)40 overlapping SVs

21 papers

chr4:10019000 A>C

NM_020041.3

p.L75R

c.224T>G

Sugar_tr

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=4, hom=0)42 overlapping SVs

21 papers

chr4:9920506 C>T

NM_020041.3

p.R294H

c.881G>A

Sugar_tr

Exome: 21.4% (AC=313476, hom=40307)Genome: 18.1% (AC=27522, hom=3490)40 overlapping SVs

20 papers

chr4:9980681 G>A

NM_020041.3

p.R198C

c.592C>T

Sugar_tr

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=4, hom=0)41 overlapping SVs

17 papers

chr4:9996817 G>A

NM_020041.3

p.T125M

c.374C>T

Sugar_tr

Exome: 0.0% (AC=58, hom=0)Genome: 0.0% (AC=23, hom=0)40 overlapping SVs

16 papers

chr4:10021357 C>G

NM_020041.3

p.G25R

c.73G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a41 overlapping SVs

16 papers

chr4:10021357 C>T

NM_020041.3

p.G25R

c.73G>A

Exome: 53.4% (AC=780055, hom=210904)Genome: 44.0% (AC=66989, hom=16328)41 overlapping SVs

16 papers

chr4:9908299 G>A

NM_020041.3

p.P350L

c.1049C>T

Sugar_tr

Exome: 49.7% (AC=726551, hom=186242)Genome: 38.0% (AC=57814, hom=13735)38 overlapping SVs

15 papers

chr4:9980627 C>T

NM_020041.3

p.G216R

c.646G>A

Sugar_tr

Exome: 0.0% (AC=422, hom=12)Genome: 0.0% (AC=19, hom=0)42 overlapping SVs

14 papers

chr4:9980627 C>G

NM_020041.3

p.G216R

c.646G>C

Sugar_tr

exact variant not in gnomAD42 overlapping SVs

12 papers

chr4:9920389 T>C

NM_020041.3

p.N333S

c.998A>G

Sugar_tr

Exome: 0.0% (AC=65, hom=0)Genome: 0.0% (AC=2, hom=0)40 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."