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.I183I

c.549A>C

Surrounding Variants

1 paper

NM_006446.5

p.I183I

c.549A>T

1 paper

NM_006446.5

p.G184fs

c.550_551fs

1 paper

NM_006446.5

p.I183insFs

c.549dupA

1 paper

NM_006446.5

p.I183V

c.547A>G

1 paper

NM_006446.5

p.G184A

c.551G>C

1 paper

NM_006446.5

p.G184G

c.552G>C

2 papers

NM_006446.5

p.E185K

c.553G>A

2 papers

NM_006446.5

p.R181H

c.542G>A

1 paper

NM_006446.5

p.R181S

c.541C>A

1 paper

NM_006446.5

p.T186N

c.557C>A

3 papers

NM_006446.5

p.R181C

c.541C>T

1 paper

NM_006446.5

p.L180F

c.538C>T