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

Selected Variant

1 paper

NM_017435.5

p.R197H

c.590G>A

Surrounding Variants

1 paper

NM_017435.5

p.R197C

c.589C>T

1 paper

NM_017435.5

p.G198*

c.592G>T

1 paper

NM_017435.5

p.E201K

c.601G>A

1 paper

NM_017435.5

p.I188T

c.563T>C

1 paper

NM_017435.5

p.E177Splc

c.530-1G>A

1 paper

NM_017435.5

p.G226Splc

c.677-1G>A

1 paper

NM_017435.5

p.P236L

c.707C>T

1 paper

NM_017435.5

p.G243D

c.728G>A

1 paper

NM_017435.5

p.D252delFs

c.754delG

5 papers

NM_017435.5

p.D252N

c.754G>A

1 paper

NM_017435.5

p.D252A

c.755A>C

1 paper

NM_017435.5

p.I253M

c.759T>G