Varaico: Literature-Extracted Genetic Variants

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.F329Y

c.986T>A

Surrounding Variants

1 paper

NM_006446.5

p.F329C

c.986T>G

1 paper

NM_006446.5

p.F329fs

c.985_986fs

1 paper

NM_006446.5

p.K330I

c.989A>T

3 papers

NM_006446.5

p.F329delFs

c.987delT

1 paper

NM_006446.5

p.S331G

c.991A>G

1 paper

NM_006446.5

p.Q327H

c.981G>C

1 paper

NM_006446.5

p.Q327H

c.981G>T

1 paper

NM_006446.5

p.S331N

c.992G>A

1 paper

NM_006446.5

p.Q327fs

c.979_980fs

1 paper

NM_006446.5

p.F326fs

c.976_977fs

1 paper

NM_006446.5

p.F325insFs

c.974_975insGT

2 papers

NM_006446.5

p.T334S

c.1000A>T