Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.C594S

SLCO2A1

260 papers

RefSeq Summary

This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of pro...

Pfam Domains

OATPaa 33–602UCSCOrganic Anion Transporter Polypeptide (OATP) family
Kazal_2aa 445–494UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

solute carrier organic anion transporter family member 2A1

HGNC Previous Symbols

SLC21A2; MATR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005630.3
p.C594S
c.1781G>C
Surrounding Variants
4 papers
NM_005630.3
p.C594Y
c.1781G>A
1 paper
NM_005630.3
p.C594S
c.1780T>A
6 papers
NM_005630.3
p.R591*
c.1771C>T
2 papers
NM_005630.3
p.R590delFs
c.1768delT
1 paper
NM_005630.3
p.R590fs
c.1768_1769fs
1 paper
NM_005630.3
p.G589R
c.1765G>C
1 paper
NM_005630.3
p.G589R
c.1765G>A
1 paper
NM_005630.3
p.N599N
c.1797C>T
1 paper
NM_005630.3
p.N599del1
c.1795_1796delGTT
1 paper
NM_005630.3
p.N599_D600delFs
c.1795_1798del4
1 paper
NM_005630.3
p.C587S
c.1760G>C
1 paper
NM_005630.3
p.C587S
c.1759T>A
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