Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.D70insFs

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.D70insFs
c.209_210insT
Surrounding Variants
1 paper
NM_006446.5
p.D70A
c.209A>C
1 paper
NM_006446.5
p.D70E
c.210C>A
1 paper
NM_006446.5
p.D70E
c.210C>G
1 paper
NM_006446.5
p.D70N
c.208G>A
16 papers
NM_006446.5
p.G71R
c.211G>A
12 papers
NM_006446.5
p.G71R
c.211G>C
2 papers
NM_006446.5
p.G71*
c.211G>T
1 paper
NM_006446.5
p.G71E
c.212G>A
1 paper
NM_006446.5
p.G71A
c.212G>C
1 paper
NM_006446.5
p.G71insFs
c.212_213insC
1 paper
NM_006446.5
p.S72fs
c.214_215fs
1 paper
NM_006446.5
p.S72N
c.215G>A
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