Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.C485F

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
6 papers
NM_006446.5
p.C485F
c.1454G>T
Surrounding Variants
1 paper
NM_006446.5
p.C485*
c.1455T>A
3 papers
NM_006446.5
p.P484H
c.1451C>A
1 paper
NM_006446.5
p.L486P
c.1457T>C
1 paper
NM_006446.5
p.P484S
c.1450C>T
1 paper
NM_006446.5
p.A487_G488insFs
c.1461_1462insA
1 paper
NM_006446.5
p.A487V
c.1460C>T
3 papers
NM_006446.5
p.I482M
c.1446C>G
1 paper
NM_006446.5
p.G488S
c.1462G>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.I482V
c.1444A>G
1 paper
NM_006446.5
p.Y481Y
c.1443C>T
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