Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A2
Variant:p.C109S

SLC3A2

1,928 papers

RefSeq Summary

This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds ...

Pfam Domains

SLC3A2_Naa 145–225UCSCSolute carrier family 3 member 2 N-terminus
Alpha-amylaseaa 229–332UCSCAlpha amylase, catalytic domain

Gene Aliases

HGNC Name

solute carrier family 3 member 2

HGNC Previous Symbol

MDU1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_001013251.3
p.C109S
c.326G>C
Surrounding Variants
9 papers
NM_001013251.3
p.C109S
c.325T>A
1 paper
NM_001013251.3
p.C109*
c.327T>A
1 paper
NM_001013251.3
p.C109R
c.325T>C
2 papers
NM_001013251.3
p.R110C
c.328C>T
1 paper
NM_001013251.3
p.R108H
c.323G>A
1 paper
NM_001013251.3
p.R108_C109insG
c.322_326ins3
1 paper
NM_001013251.3
p.E111K
c.331G>A
1 paper
NM_001013251.3
p.E111*
c.331G>T
1 paper
NM_001013251.3
p.P107L
c.320C>T
1 paper
NM_001013251.3
p.P107T
c.319C>A
1 paper
NM_001013251.3
p.P107S
c.319C>T
1 paper
NM_001013251.3
p.E111D
c.333G>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."