Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.E74A

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.E74A
c.221A>C
Surrounding Variants
2 papers
NM_006446.5
p.E74D
c.222A>C
2 papers
NM_006446.5
p.E74D
c.222A>T
23 papers
NM_006446.5
p.F73L
c.219T>A
23 papers
NM_006446.5
p.F73L
c.219T>G
1 paper
NM_006446.5
p.F73Y
c.218T>A
27 papers
NM_006446.5
p.F73L
c.217T>C
4 papers
NM_006446.5
p.G76E
c.227G>A
1 paper
NM_006446.5
p.S72N
c.215G>A
1 paper
NM_006446.5
p.G76A
c.227G>C
2 papers
NM_006446.5
p.G76V
c.227G>T
1 paper
NM_006446.5
p.S72fs
c.214_215fs
1 paper
NM_006446.5
p.G71E
c.212G>A
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