Varaico: Literature-Extracted Genetic Variants

Gene:SLC23A2
Variant:p.C129S

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.C129S
c.385T>A
Surrounding Variants
1 paper
NM_005116.6
p.C129S
c.386G>C
1 paper
NM_005116.6
p.A125A
c.375C>T
1 paper
NM_005116.6
p.C113S
c.338G>C
1 paper
NM_005116.6
p.C113S
c.337T>A
1 paper
NM_005116.6
p.L111L
c.333G>C
2 papers
NM_005116.6
p.L111P
c.332T>C
1 paper
NM_005116.6
p.L111Q
c.332T>A
1 paper
NM_005116.6
p.C147S
c.439T>A
1 paper
NM_005116.6
p.C147S
c.440G>C
1 paper
NM_005116.6
p.H109Y
c.325C>T
1 paper
NM_005116.6
p.T152N
c.455C>A
1 paper
NM_005116.6
p.L154_Q155insTT
c.460_464ins6
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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."