Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.I192fs

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.I192fs
c.574_575fs
Surrounding Variants
1 paper
NM_006516.4
p.I192fs
c.574_575fs
2 papers
NM_006516.4
p.I192delFs
c.574_575delAT
1 paper
NM_006516.4
p.I192delFs
c.576delG
1 paper
NM_006516.4
p.L190R
c.569T>G
2 papers
NM_006516.4
p.I193fs
c.577_578fs
1 paper
NM_006516.4
p.I193delFs
c.579delG
1 paper
NM_006516.4
p.L189_L190insFs
c.567_568ins4
1 paper
NM_006516.4
p.L189L
c.567G>A
1 paper
NM_006516.4
p.L185_L189delFs
c.553_566del14
1 paper
NM_006516.4
p.I195N
c.584T>A
1 paper
NM_006516.4
p.L188fs
c.562_563fs
4 papers
NM_006516.4
p.L188insFs
c.562_563insC
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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."