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.C142fs

c.424_425fs

Surrounding Variants

1 paper

NM_006446.5

p.C142R

c.424T>C

1 paper

NM_006446.5

p.N145T

c.434A>C

20 papers

NM_006446.5

p.S137S

c.411G>A

1 paper

NM_006446.5

p.S137L

c.410C>T

1 paper

NM_006446.5

p.I147V

c.439A>G

1 paper

NM_006446.5

p.L148*

c.443T>A

1 paper

NM_006446.5

p.L148*

c.443T>G

1 paper

NM_006446.5

p.N134fs

c.400_401fs

1 paper

NM_006446.5

p.N151D

c.451A>G

1 paper

NM_006446.5

p.N134insFs

c.401dupA

17 papers

NM_006446.5

p.N151S

c.452A>G

1 paper

NM_006446.5

p.S132L

c.395C>T