Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.E41K

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
2 papers
NM_006516.4
p.E41K
c.121G>A
Surrounding Variants
3 papers
NM_006516.4
p.E41*
c.121G>T
1 paper
NM_006516.4
p.E42*
c.124G>T
1 paper
NM_006516.4
p.E42A
c.125A>C
1 paper
NM_006516.4
p.E42insFs
c.124dupG
1 paper
NM_006516.4
p.E42del1
c.124_125delCTC
1 paper
NM_006516.4
p.K38_V39Splc
c.115-1G>A
1 paper
NM_006516.4
p.K38_V39Splc
c.115-2A>G
1 paper
NM_006516.4
p.K38_V39Splc
c.115-2A>C
1 paper
NM_006516.4
p.Y44H
c.130T>C
1 paper
NM_006516.4
p.N45fs
c.133_134fs
1 paper
NM_006516.4
p.N45D
c.133A>G
10 papers
NM_006516.4
p.N45T
c.134A>C
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