Varaico: Literature-Extracted Genetic Variants

SLCO1C1

103 papers

RefSeq Summary

This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. Th...

Pfam Domains

OATPaa 44–638UCSCOrganic Anion Transporter Polypeptide (OATP) family

Kazal_2aa 477–523UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

solute carrier organic anion transporter family member 1C1

HGNC Previous Symbol

SLC21A14

Papers

RefSeq ID

Protein change

DNA change

1–12 of 104 variants

8 papers

NM_017435.5

p.P143T

c.427C>A

5 papers

NM_017435.5

p.D252N

c.754G>A

3 papers

NM_017435.5

p.T3S

c.7A>T

3 papers

NM_017435.5

p.T3S

c.8C>G

2 papers

NM_017435.5

p.L155I

c.463C>A

2 papers

NM_017435.5

p.I174T

c.521T>C

2 papers

NM_017435.5

p.G492S

c.1474G>A

1 paper

NM_017435.5

p.D2G

c.5A>G

1 paper

NM_017435.5

p.Q10*

c.28C>T

1 paper

NM_017435.5

p.Q18Q

c.54A>G

1 paper

NM_017435.5

p.E34D

c.102A>C

1 paper

NM_017435.5

p.E34D

c.102A>T