Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A4
Variant:p.Q107*

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
1 paper
NM_003059.3
p.Q107*
c.319C>T
Surrounding Variants
1 paper
NM_003059.3
p.Q107K
c.319C>A
1 paper
NM_003059.3
p.C113R
c.337T>C
1 paper
NM_003059.3
p.C113insFs
c.337_338ins4
7 papers
NM_003059.3
p.C113Y
c.338G>A
1 paper
NM_003059.3
p.C113C
c.339C>T
1 paper
NM_003059.3
p.D115G
c.344A>G
1 paper
NM_003059.3
p.G96A
c.287G>C
1 paper
NM_003059.3
p.G96delFs
c.288delG
1 paper
NM_003059.3
p.L95V
c.283C>G
1 paper
NM_003059.3
p.S93W
c.278C>G
1 paper
NM_003059.3
p.S120S
c.360C>T
2 papers
NM_003059.3
p.V123G
c.368T>G
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