Varaico: Literature-Extracted Genetic Variants

Gene:RSC1A1
Variant:p.S236P

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.S236P
c.706T>C
Surrounding Variants
1 paper
NM_006511.3
p.R202S
c.606G>C
1 paper
NM_006511.3
p.R202S
c.606G>T
1 paper
NM_006511.3
p.A270S
c.808G>T
2 papers
NM_006511.3
p.N271S
c.812A>G
1 paper
NM_006511.3
p.I275M
c.825T>G
1 paper
NM_006511.3
p.D279fs
c.835_836fs
1 paper
NM_006511.3
p.D279_L282delFs
c.836_846del11
1 paper
NM_006511.3
p.H185R
c.554A>G
1 paper
NM_006511.3
p.H185D
c.553C>G
1 paper
NM_006511.3
p.V178G
c.533T>G
1 paper
NM_006511.3
p.E169K
c.505G>A
1 paper
NM_006511.3
p.S163N
c.488G>A
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