Varaico: Literature-Extracted Genetic Variants

SLCO1B3

456 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 endogenous and xenobio...

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 1B3

HGNC Previous Symbol

SLC21A8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

21 papers

NM_019844.4

p.N130D

c.388A>G

Surrounding Variants

2 papers

NM_019844.4

p.I129M

c.387T>G

1 paper

NM_019844.4

p.P131T

c.391C>A

1 paper

NM_019844.4

p.H128Q

c.384T>A

1 paper

NM_019844.4

p.H128Q

c.384T>G

2 papers

NM_019844.4

p.Y120_Y121del1

c.360_362delTTA

1 paper

NM_001349920.2

p.S112A

c.334T>G

1 paper

NM_019844.4

p.N145S

c.434A>G

1 paper

NM_019844.4

p.Q146_T147delFs

c.437_440del4

1 paper

NM_019844.4

p.Q146fs

c.436_437fs

6 papers

NM_019844.4

p.T147A

c.439A>G

1 paper

NM_019844.4

p.L148_S149del2

c.442_446del6

6 papers

NM_019844.4

p.N151S

c.452A>G