Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.K230R

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.K230R
c.689A>G
Surrounding Variants
2 papers
NM_006516.4
p.K230T
c.689A>C
1 paper
NM_006516.4
p.L228_K230del0
c.684_689del6
1 paper
NM_006516.4
p.K230insFs
c.688_689insT
1 paper
NM_006516.4
p.L231V
c.691C>G
1 paper
NM_006516.4
p.L231M
c.691C>A
4 papers
NM_006516.4
p.L231P
c.692T>C
1 paper
NM_006516.4
p.K229R
c.686A>G
9 papers
NM_006516.4
p.R232C
c.694C>T
1 paper
NM_006516.4
p.L228delFs
c.683delA
1 paper
NM_006516.4
p.L228delFs
c.682delG
6 papers
NM_006516.4
p.R232H
c.695G>A
1 paper
NM_006516.4
p.R232_G233insFs
c.696_697insAT
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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."