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

1 paper

NM_001349920.2

p.S112A

c.334T>G

Surrounding Variants

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

1 paper

NM_019844.4

p.P131T

c.391C>A

21 papers

NM_019844.4

p.N130D

c.388A>G

2 papers

NM_019844.4

p.I129M

c.387T>G

6 papers

NM_019844.4

p.N151S

c.452A>G

1 paper

NM_019844.4

p.H128Q

c.384T>A

1 paper

NM_019844.4

p.H128Q

c.384T>G

3 papers

NM_019844.4

p.G152E

c.455G>A