Varaico: Literature-Extracted Genetic Variants

Gene:SLC23A2
Variant:p.N188N

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.N188N
c.564C>T
Surrounding Variants
1 paper
NM_005116.6
p.N188D
c.562A>G
1 paper
NM_005116.6
p.C187S
c.560G>C
1 paper
NM_005116.6
p.C187S
c.559T>A
2 papers
NM_005116.6
p.R177Q
c.530G>A
1 paper
NM_005116.6
p.A195T
c.583G>A
1 paper
NM_005116.6
p.H203Q
c.609C>G
1 paper
NM_005116.6
p.H203Q
c.609C>A
1 paper
NM_005116.6
p.H206Q
c.618C>G
1 paper
NM_005116.6
p.H206Q
c.618C>A
1 paper
NM_005116.6
p.R211Q
c.632G>A
2 papers
NM_005116.6
p.E214_I215Splc
c.642+453G>C
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."