Varaico: Literature-Extracted Genetic Variants

Gene:RSC1A1
Variant:p.H80Q

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.H80Q
c.240T>G
Surrounding Variants
1 paper
NM_006511.3
p.H80Q
c.240T>A
1 paper
NM_006511.3
p.A81G
c.242C>G
1 paper
NM_006511.3
p.S78C
c.233C>G
1 paper
NM_006511.3
p.A87V
c.260C>T
1 paper
NM_006511.3
p.S73Y
c.218C>A
1 paper
NM_006511.3
p.K68N
c.204G>C
1 paper
NM_006511.3
p.K68N
c.204G>T
1 paper
NM_006511.3
p.Q63Q
c.189G>A
6 papers
NM_006511.3
p.F62L
c.186C>A
6 papers
NM_006511.3
p.F62L
c.186C>G
6 papers
NM_006511.3
p.F62L
c.184T>C
1 paper
NM_006511.3
p.E102K
c.304G>A
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