Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S113_S118del0

SLC2A1

1,013 papers

RefSeq Summary

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a...

Pfam Domains

Sugar_traa 15–467UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 2 member 1

HGNC Previous Symbols

GLUT1; GLUT; HTLVR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006516.4
p.S113_S118del0
c.338_352del15
Surrounding Variants
1 paper
NM_006516.4
p.S118_F119insFs
c.354_355insT
1 paper
NM_006516.4
p.F119L
c.355T>C
1 paper
NM_006516.4
p.S118C
c.353C>G
1 paper
NM_006516.4
p.F119S
c.356T>C
1 paper
NM_006516.4
p.S118P
c.352T>C
2 papers
NM_006516.4
p.S113_S118Fs
c.338_352delinsTTGAGFs
1 paper
NM_006516.4
p.F119L
c.357T>G
1 paper
NM_006516.4
p.F119L
c.357T>A
1 paper
NM_006516.4
p.K117N
c.351G>T
1 paper
NM_006516.4
p.K117N
c.351G>C
1 paper
NM_006516.4
p.F119insFs
c.357dupT
1 paper
NM_006516.4
p.K117R
c.350A>G
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