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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC23A1

SLC23A1

61 papers

RefSeq Summary

The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is act...

Pfam Domains

Xan_ur_permeaseaa 43–477UCSCPermease family

Gene Aliases

HGNC Name

solute carrier family 23 member 1

HGNC Alias Symbols

YSPL3; SVCT1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 87 variants

6 papers

chr5:139379813 C>T

NM_005847.5

p.V264M

c.790G>A

Xan_ur_permease

Exome: 3.1% (AC=44905, hom=793)Genome: 3.9% (AC=5944, hom=159)51 overlapping SVs

4 papers

chr5:139382020 G>A

NM_005847.5

p.I60I

c.180C>T

Xan_ur_permease

Exome: 1.9% (AC=27743, hom=463)Genome: 3.4% (AC=5222, hom=144)50 overlapping SVs

3 papers

chr5:139380072 T>C

NM_005847.5

p.I218V

c.652A>G

Xan_ur_permease

Exome: 0.1% (AC=780, hom=4)Genome: 0.6% (AC=901, hom=5)51 overlapping SVs

3 papers

chr5:139379831 T>C

NM_005847.5

p.M258V

c.772A>G

Xan_ur_permease

Exome: 0.2% (AC=2922, hom=94)Genome: 2.0% (AC=2971, hom=108)51 overlapping SVs

2 papers

chr5:139383234 A>G

NM_005847.5

p.L7P

c.20T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a50 overlapping SVs

2 papers

chr5:139382580 G>T

NM_005847.5

p.T21N

c.62C>A

exact variant not in gnomAD50 overlapping SVs

2 papers

chr5:139382047 G>C

NM_005847.5

p.H51Q

c.153C>G

Xan_ur_permease

exact variant not in gnomAD50 overlapping SVs

2 papers

chr5:139382047 G>T

NM_005847.5

p.H51Q

c.153C>A

Xan_ur_permease

exact variant not in gnomAD50 overlapping SVs

2 papers

chr5:139378299 C>A

NM_005847.5

p.G411V

c.1232G>T

Xan_ur_permease

exact variant not in gnomAD50 overlapping SVs

2 papers

chr5:139378270 C>A

NM_005847.5

p.A421S

c.1261G>T

Xan_ur_permease

Exome: 0.0% (AC=135, hom=1)Genome: 0.1% (AC=136, hom=0)50 overlapping SVs

1 paper

chr5:139383252 A>T

NM_005847.5

p.M1K

c.2T>A

exact variant not in gnomAD50 overlapping SVs

1 paper

chr5:139382601 T>C

NM_005847.5

p.E14G

c.41A>G

exact variant not in gnomAD50 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."