Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.R264C

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
3 papers
NM_006516.4
p.R264C
c.790C>T
Surrounding Variants
1 paper
NM_006516.4
p.R264L
c.791G>T
2 papers
NM_006516.4
p.R264insFs
c.790dupC
2 papers
NM_006516.4
p.R264delFs
c.790delG
1 paper
NM_006516.4
p.F263_R264delFs
c.789_790delGG
1 paper
NM_006516.4
p.K256_F263ins2
c.767_787dup21
2 papers
NM_006516.4
p.R264R
c.792C>T
2 papers
NM_006516.4
p.R264fs
c.790_791fs
1 paper
NM_006516.4
p.R264delFs
c.791delC
1 paper
NM_006516.4
p.F263_R264delFs
c.787_791del5
1 paper
NM_006516.4
p.S265F
c.794C>T
1 paper
NM_006516.4
p.L262P
c.785T>C
1 paper
NM_006516.4
p.L262L
c.784C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."