Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.K255_T258del0

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.K255_T258del0
c.765_773del9
Surrounding Variants
1 paper
NM_006516.4
p.T258A
c.772A>G
1 paper
NM_006516.4
p.V257delFs
c.771delG
2 papers
NM_006516.4
p.I259I
c.777C>T
1 paper
NM_006516.4
p.L260V
c.778C>G
1 paper
NM_006516.4
p.K256fs
c.766_767fs
1 paper
NM_006516.4
p.K256M
c.767A>T
1 paper
NM_006516.4
p.K256R
c.767A>G
1 paper
NM_006516.4
p.K256delins
c.766_767delinsGT
2 papers
NM_006516.4
p.K256*
c.766A>T
3 papers
NM_006516.4
p.K256E
c.766A>G
1 paper
NM_006516.4
p.K255K
c.765G>A
1 paper
NM_006516.4
p.K256_E261delFs
c.767_782del16
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