Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.S131L

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.S131L
c.392C>T
Surrounding Variants
1 paper
NM_006446.5
p.S132L
c.395C>T
4 papers
NM_006446.5
p.N130H
c.388A>C
531 papers
NM_006446.5
p.N130D
c.388A>G
1 paper
NM_006446.5
p.N130Y
c.388A>T
1 paper
NM_006446.5
p.N134insFs
c.401dupA
1 paper
NM_006446.5
p.I129V
c.385A>G
1 paper
NM_006446.5
p.N134fs
c.400_401fs
4 papers
NM_006446.5
p.N128Y
c.382A>T
1 paper
NM_006446.5
p.T127S
c.380C>G
1 paper
NM_006446.5
p.T127S
c.379A>T
1 paper
NM_006446.5
p.E126K
c.376G>A
1 paper
NM_006446.5
p.S137L
c.410C>T
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