Varaico: Literature-Extracted Genetic Variants

Gene:SLC23A2
Variant:p.H269Q

SLC23A2

88 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 required transporters and the encoded pr...

Pfam Domains

Xan_ur_permeaseaa 101–535UCSCPermease family

Gene Aliases

HGNC Name

solute carrier family 23 member 2

HGNC Alias Symbols

SVCT2; KIAA0238; YSPL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005116.6
p.H269Q
c.807C>G
Surrounding Variants
1 paper
NM_005116.6
p.H269Q
c.807C>A
1 paper
NM_005116.6
p.W270fs
c.808_809fs
1 paper
NM_005116.6
p.W270insFs
c.808dupT
1 paper
NM_005116.6
p.K268E
c.802A>G
1 paper
NM_005116.6
p.E264E
c.792G>A
1 paper
NM_005116.6
p.E264G
c.791A>G
1 paper
NM_005116.6
p.E264K
c.790G>A
1 paper
NM_005116.6
p.A252A
c.756C>T
1 paper
NM_005116.6
p.A252T
c.754G>A
1 paper
NM_005116.6
p.L234M
c.700C>A
1 paper
NM_005116.6
p.G233G
c.699C>T
1 paper
NM_005116.6
p.I220I
c.660C>T
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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."