Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.L350F

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.L350F
c.1048C>T
Surrounding Variants
1 paper
NM_006516.4
p.L350V
c.1048C>G
1 paper
NM_006516.4
p.A345_A348delFs
c.1033_1042del10
1 paper
NM_006516.4
p.T352P
c.1054A>C
1 paper
NM_006516.4
p.L338_T352del15
c.1012_1055del45
1 paper
NM_006516.4
p.A354_L355insT
c.1060_1064ins3
1 paper
NM_006516.4
p.G346R
c.1036G>C
1 paper
NM_006516.4
p.A354T
c.1060G>A
1 paper
NM_006516.4
p.G346S
c.1036G>A
1 paper
NM_006516.4
p.L341_A345del5
c.1021_1034del15
1 paper
NM_006516.4
p.I353delFs
c.1059delG
1 paper
NM_006516.4
p.A354fs
c.1060_1061fs
1 paper
NM_006516.4
p.A345_G346ins4
c.1035_1036ins12
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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."