Varaico: Literature-Extracted Genetic Variants

Gene:SLC23A1
Variant:p.P131insFs

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
1 paper
NM_005847.5
p.P131insFs
c.392dupC
Surrounding Variants
1 paper
NM_005847.5
p.P131fs
c.391_392fs
1 paper
NM_005847.5
p.E133K
c.397G>A
1 paper
NM_005847.5
p.P130L
c.389C>T
1 paper
NM_005847.5
p.C129S
c.386G>C
1 paper
NM_005847.5
p.C129S
c.385T>A
1 paper
NM_005847.5
p.K119K
c.357A>G
1 paper
NM_005847.5
p.A109D
c.326C>A
1 paper
NM_005847.5
p.Q108P
c.323A>C
1 paper
NM_005847.5
p.L106R
c.317T>G
1 paper
NM_005847.5
p.E133Splc
c.398-74A>C
1 paper
NM_005847.5
p.E133Splc
c.398-73G>C
1 paper
NM_005847.5
p.E133K
c.397G>A
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