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.L632_R633insC

c.1894_1898ins3

Surrounding Variants

1 paper

NM_006446.5

p.R633K

c.1898G>A

1 paper

NM_006446.5

p.V634I

c.1900G>A

1 paper

NM_006446.5

p.S635fs

c.1903_1904fs

1 paper

NM_006446.5

p.S635_L637delFs

c.1905_1909del5

1 paper

NM_006446.5

p.S636fs

c.1906_1907fs

1 paper

NM_006446.5

p.L637delFs

c.1909delC

1 paper

NM_006446.5

p.G627S

c.1879G>A

1 paper

NM_006446.5

p.L626F

c.1878G>C

1 paper

NM_006446.5

p.L626F

c.1878G>T

1 paper

NM_006446.5

p.L637P

c.1910T>C

5 papers

NM_006446.5

p.L626*

c.1877T>A

1 paper

NM_006446.5

p.L639fs

c.1915_1916fs