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.D198N

c.592G>A

Surrounding Variants

1 paper

NM_006446.5

p.D198A

c.593A>C

1 paper

NM_006446.5

p.D198G

c.593A>G

1 paper

NM_006446.5

p.F199delFs

c.596delT

2 papers

NM_006446.5

p.D197Y

c.589G>T

1 paper

NM_006446.5

p.F199fs

c.595_596fs

43 papers

NM_006446.5

p.F199F

c.597C>T

1 paper

NM_006446.5

p.I196V

c.586A>G

2 papers

NM_006446.5

p.A200T

c.598G>A

5 papers

NM_006446.5

p.K201E

c.601A>G

1 paper

NM_006446.5

p.S194_Y195delFs

c.582_583delTT

1 paper

NM_006446.5

p.S194fs

c.580_581fs

1 paper

NM_006446.5

p.L193P

c.578T>C