Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A4
Variant:p.R282*

SLC22A4

272 papers

RefSeq Summary

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and en...

Pfam Domains

Sugar_traa 111–522UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 22 member 4

HGNC Previous Symbol

DFNB60

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_003059.3
p.R282*
c.844C>T
Surrounding Variants
1 paper
NM_003059.3
p.R282Q
c.845G>A
3 papers
NM_003059.3
p.W283R
c.847T>A
3 papers
NM_003059.3
p.W283R
c.847T>C
1 paper
NM_003059.3
p.S280F
c.839C>T
2 papers
NM_003059.3
p.W283C
c.849G>C
2 papers
NM_003059.3
p.W283C
c.849G>T
2 papers
NM_003059.3
p.S286F
c.857C>T
1 paper
NM_003059.3
p.Q287E
c.859C>G
2 papers
NM_003059.3
p.F290S
c.869T>C
1 paper
NM_003059.3
p.D295G
c.884A>G
1 paper
NM_003059.3
p.I296V
c.886A>G
1 paper
NM_003059.3
p.Q298*
c.892C>T
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