Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.H575L

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
4 papers
NM_006446.5
p.H575L
c.1724A>T
Surrounding Variants
1 paper
NM_006446.5
p.H575Y
c.1723C>T
1 paper
NM_006446.5
p.S576A
c.1726T>G
1 paper
NM_006446.5
p.S576*
c.1727C>A
1 paper
NM_006446.5
p.S576*
c.1727C>G
1 paper
NM_006446.5
p.M577L
c.1729A>C
1 paper
NM_006446.5
p.M577V
c.1729A>G
1 paper
NM_006446.5
p.M577L
c.1729A>T
1 paper
NM_006446.5
p.V578I
c.1732G>A
37 papers
NM_006446.5
p.R580*
c.1738C>T
3 papers
NM_006446.5
p.R580Q
c.1739G>A
1 paper
NM_006446.5
p.S569*
c.1706C>A
1 paper
NM_006446.5
p.S569*
c.1706C>G
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