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.L503F

c.1507C>T

Surrounding Variants

1 paper

NM_017435.5

p.Y498C

c.1493A>G

1 paper

NM_017435.5

p.T497P

c.1489A>C

1 paper

NM_017435.5

p.G495A

c.1484G>C

2 papers

NM_017435.5

p.G492S

c.1474G>A

1 paper

NM_017435.5

p.P489L

c.1466C>T

1 paper

NM_017435.5

p.W487*

c.1460G>A

1 paper

NM_017435.5

p.E484D

c.1452G>C

1 paper

NM_017435.5

p.E484D

c.1452G>T

1 paper

NM_017435.5

p.C480Y

c.1439G>A

1 paper

NM_017435.5

p.Y467F

c.1400A>T

1 paper

NM_017435.5

p.G461Splc

c.1383-6T>C

1 paper

NM_017435.5

p.G461Splc

c.1383-99A>G