Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.V448E

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.V448E
c.1343T>A
Surrounding Variants
1 paper
NM_006446.5
p.V448M
c.1342G>A
1 paper
NM_006446.5
p.N446I
c.1337A>T
1 paper
NM_006446.5
p.P455_L456ins1
c.1365_1366insGGG
2 papers
NM_006446.5
p.Y458F
c.1373A>T
2 papers
NM_006446.5
p.C459F
c.1376G>T
1 paper
NM_006446.5
p.D462N
c.1384G>A
19 papers
NM_006446.5
p.D462G
c.1385A>G
1 paper
NM_006446.5
p.D462D
c.1386C>T
1 paper
NM_006446.5
p.C463Y
c.1388G>A
1 paper
NM_006446.5
p.C465R
c.1393T>C
1 paper
NM_006446.5
p.C465Y
c.1394G>A
2 papers
NM_006446.5
p.Q469Q
c.1407A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."