Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.F199F

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
43 papers
NM_006446.5
p.F199F
c.597C>T
Surrounding Variants
2 papers
NM_006446.5
p.A200T
c.598G>A
1 paper
NM_006446.5
p.F199fs
c.595_596fs
1 paper
NM_006446.5
p.D198A
c.593A>C
5 papers
NM_006446.5
p.K201E
c.601A>G
1 paper
NM_006446.5
p.D198G
c.593A>G
1 paper
NM_006446.5
p.F199delFs
c.596delT
1 paper
NM_006446.5
p.D198N
c.592G>A
2 papers
NM_006446.5
p.D197Y
c.589G>T
1 paper
NM_006446.5
p.G203*
c.607G>T
1 paper
NM_006446.5
p.I196V
c.586A>G
3 papers
NM_006446.5
p.G203E
c.608G>A
1 paper
NM_006446.5
p.H204Y
c.610C>T
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