Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.P472S

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.P472S
c.1414C>T
Surrounding Variants
2 papers
NM_006446.5
p.Q469Q
c.1407A>G
1 paper
NM_006446.5
p.C474*
c.1422T>A
2 papers
NM_006446.5
p.G475R
c.1423G>A
2 papers
NM_006446.5
p.G475R
c.1423G>C
1 paper
NM_006446.5
p.N477S
c.1430A>G
1 paper
NM_006446.5
p.G478R
c.1432G>A
1 paper
NM_006446.5
p.G478R
c.1432G>C
1 paper
NM_006446.5
p.C465Y
c.1394G>A
1 paper
NM_006446.5
p.C465R
c.1393T>C
1 paper
NM_006446.5
p.I479M
c.1437A>G
1 paper
NM_006446.5
p.C463Y
c.1388G>A
1 paper
NM_006446.5
p.Y481H
c.1441T>C
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