Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.C489S

SLCO1B1

1,357 papers

RefSeq Summary

This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous co...

Pfam Domains

OATPaa 29–621UCSCOrganic Anion Transporter Polypeptide (OATP) family
Kazal_2aa 460–506UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

solute carrier organic anion transporter family member 1B1

HGNC Previous Symbol

SLC21A6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006446.5
p.C489S
c.1466G>C
Surrounding Variants
1 paper
NM_006446.5
p.C489S
c.1465T>A
49 papers
NM_006446.5
p.G488A
c.1463G>C
2 papers
NM_006446.5
p.G488V
c.1463G>T
1 paper
NM_006446.5
p.G488S
c.1462G>A
1 paper
NM_006446.5
p.A487_G488insFs
c.1461_1462insA
1 paper
NM_006446.5
p.A487V
c.1460C>T
1 paper
NM_006446.5
p.S492delFs
c.1474delT
1 paper
NM_006446.5
p.S492T
c.1474T>A
1 paper
NM_006446.5
p.S492insFs
c.1475dupC
1 paper
NM_006446.5
p.S492fs
c.1474_1475fs
1 paper
NM_006446.5
p.S492*
c.1475C>A
1 paper
NM_006446.5
p.L486P
c.1457T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."