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

2 papers

NM_006446.5

p.L643*

c.1928T>A

Surrounding Variants

2 papers

NM_006446.5

p.L643*

c.1928T>G

49 papers

NM_006446.5

p.L643F

c.1929A>C

35 papers

NM_006446.5

p.L643F

c.1929A>T

1 paper

NM_006446.5

p.L643fs

c.1927_1928fs

1 paper

NM_006446.5

p.L643_I644delFs

c.1929_1932del4

1 paper

NM_006446.5

p.I642fs

c.1924_1925fs

1 paper

NM_006446.5

p.Y645F

c.1934A>T

1 paper

NM_006446.5

p.Y640F

c.1919A>T

1 paper

NM_006446.5

p.I642_L643delFs

c.1925_1929del5

1 paper

NM_006446.5

p.L639fs

c.1915_1916fs

1 paper

NM_006446.5

p.K649R

c.1946A>G

1 paper

NM_006446.5

p.L637P

c.1910T>C