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.G192E

c.575G>A

Surrounding Variants

1 paper

NM_006446.5

p.L193I

c.577C>A

1 paper

NM_006446.5

p.L193F

c.577C>T

1 paper

NM_006446.5

p.L193P

c.578T>C

19 papers

NM_006446.5

p.L193R

c.578T>G

1 paper

NM_006446.5

p.S194_I196delFs

c.581_588del8

33 papers

NM_006446.5

p.L191L

c.571T>C

1 paper

NM_006446.5

p.L191fs

c.571_572fs

1 paper

NM_006446.5

p.S194fs

c.580_581fs

1 paper

NM_006446.5

p.S194_Y195delFs

c.582_583delTT

1 paper

NM_006446.5

p.V189_P190insFs

c.566_569dup4

1 paper

NM_006446.5

p.I196V

c.586A>G

2 papers

NM_006446.5

p.D197Y

c.589G>T