Varaico: Literature-Extracted Genetic Variants

Gene:RSC1A1
Variant:p.R582H

RSC1A1

45 papers

RefSeq Summary

The protein encoded by this intronless gene inhibits the expression of the solute carrier family 5 (sodium/glucose cotransporter), member 1 gene (SLC5A1) and downregulates exocytosis of the SLC5A1 pro...

Gene Aliases

HGNC Name

regulator of solute carriers 1

HGNC Previous Name

regulatory solute carrier protein, family 1, member 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006511.3
p.R582H
c.1745G>A
Surrounding Variants
1 paper
NM_006511.3
p.R579H
c.1736G>A
1 paper
NM_006511.3
p.T586A
c.1756A>G
1 paper
NM_006511.3
p.G592E
c.1775G>A
1 paper
NM_006511.3
p.C543fs
c.1627_1628fs
1 paper
NM_006511.3
p.V542I
c.1624G>A
1 paper
NM_006511.3
p.C543_P544delFs
c.1627_1630del4
1 paper
NM_006511.3
p.D534fs
c.1600_1601fs
1 paper
NM_006511.3
p.T533_D534delFs
c.1597_1600del4
1 paper
NM_006511.3
p.G527S
c.1579G>A
1 paper
NM_006511.3
p.Q526H
c.1578G>C
1 paper
NM_006511.3
p.Q526H
c.1578G>T
1 paper
NM_006511.3
p.E509K
c.1525G>A
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