Varaico: Literature-Extracted Genetic Variants

Gene:SLC23A1
Variant:p.H51Q

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005847.5
p.H51Q
c.153C>G
Surrounding Variants
2 papers
NM_005847.5
p.H51Q
c.153C>A
1 paper
NM_005847.5
p.H51R
c.152A>G
1 paper
NM_005847.5
p.H51Y
c.151C>T
1 paper
NM_005847.5
p.H51D
c.151C>G
1 paper
NM_005847.5
p.H51N
c.151C>A
1 paper
NM_005847.5
p.Y52F
c.155A>T
1 paper
NM_005847.5
p.T59S
c.176C>G
4 papers
NM_005847.5
p.I60I
c.180C>T
1 paper
NM_005847.5
p.V62M
c.184G>A
1 paper
NM_005847.5
p.P63S
c.187C>T
1 paper
NM_005847.5
p.D75V
c.224A>T
1 paper
NM_005847.5
p.D75A
c.224A>C
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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."