Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.K7fs

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.K7fs
c.19_20fs
Surrounding Variants
1 paper
NM_006516.4
p.K7delFs
c.21delC
1 paper
NM_006516.4
p.K7M
c.20A>T
1 paper
NM_006516.4
p.K7R
c.20A>G
1 paper
NM_006516.4
p.K7T
c.20A>C
1 paper
NM_006516.4
p.L8Q
c.23T>A
1 paper
NM_006516.4
p.K7fs
c.19_20fs
1 paper
NM_006516.4
p.K6_K7Splc
c.19-1G>A
3 papers
NM_006516.4
p.T9M
c.26C>T
1 paper
NM_006516.4
p.T9T
c.27G>T
1 paper
NM_006516.4
p.T9_G10insFs
c.27_28insT
1 paper
NM_006516.4
p.T9T
c.27G>A
2 papers
NM_006516.4
p.K6_K7Splc
c.19-5C>T
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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."