Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.K114fs

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.K114fs
c.340_341fs
Surrounding Variants
1 paper
NM_006516.4
p.K114N
c.342A>T
1 paper
NM_006516.4
p.L115fs
c.343_344fs
2 papers
NM_006516.4
p.K114_L115insFs
c.342_343insA
1 paper
NM_006516.4
p.S113_K114delFs
c.337_340del4
1 paper
NM_006516.4
p.L115P
c.344T>C
2 papers
NM_006516.4
p.S113delFs
c.339delC
1 paper
NM_006516.4
p.S113fs
c.337_338fs
3 papers
NM_006516.4
p.S113S
c.339G>C
1 paper
NM_006516.4
p.S113S
c.339G>A
1 paper
NM_006516.4
p.S113L
c.338C>T
1 paper
NM_006516.4
p.S113insFs
c.337_338ins5
1 paper
NM_006516.4
p.S113insFs
c.338_339ins5
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