Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A4
Variant:p.G512R

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.G512R
c.1534G>C
Surrounding Variants
1 paper
NM_003059.3
p.G512R
c.1534G>A
1 paper
NM_003059.3
p.M513T
c.1538T>C
1 paper
NM_003059.3
p.F507S
c.1520T>C
1 paper
NM_003059.3
p.F507fs
c.1519_1520fs
1 paper
NM_003059.3
p.T504I
c.1511C>T
97 papers
NM_003059.3
p.L503F
c.1507C>T
1 paper
NM_003059.3
p.Q521Q
c.1563G>A
1 paper
NM_003059.3
p.G501*
c.1501G>T
4 papers
NM_003059.3
p.I500N
c.1499T>A
1 paper
NM_003059.3
p.V492I
c.1474G>A
1 paper
NM_003059.3
p.P489L
c.1466C>T
3 papers
NM_003059.3
p.M487T
c.1460T>C
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