Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.F230del1

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.F230del1
c.688_689delTTT
Surrounding Variants
1 paper
NM_006446.5
p.L229fs
c.685_686fs
1 paper
NM_006446.5
p.S228F
c.683C>T
1 paper
NM_006446.5
p.L229delFs
c.685_686delCT
1 paper
NM_006446.5
p.G227E
c.680G>A
1 paper
NM_006446.5
p.G227A
c.680G>C
1 paper
NM_006446.5
p.K232T
c.695A>C
21 papers
NM_006446.5
p.M233I
c.699G>A
10 papers
NM_006446.5
p.M233I
c.699G>C
10 papers
NM_006446.5
p.M233I
c.699G>T
1 paper
NM_006446.5
p.T225I
c.674C>T
5 papers
NM_006446.5
p.V235M
c.703G>A
1 paper
NM_006446.5
p.F224Y
c.671T>A
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