Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A2

SLC10A2

237 papers

RefSeq Summary

This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic prod...

Pfam Domains

SBFaa 39–220UCSCSodium Bile acid symporter family

Gene Aliases

HGNC Name

solute carrier family 10 member 2

HGNC Previous Symbols

ASBT; ISBT

Papers
RefSeq ID
Protein change
DNA change
1–12 of 296 variants
17 papers
NM_000452.3
p.T262M
c.785C>T
15 papers
NM_000452.3
p.P290S
c.868C>T
14 papers
NM_000452.3
p.V98I
c.292G>A
12 papers
NM_000452.3
p.V159I
c.475G>A
11 papers
NM_000452.3
p.L243P
c.728T>C
7 papers
NM_000452.3
p.C144Y
c.431G>A
6 papers
NM_000452.3
p.P142L
c.425C>T
5 papers
NM_000452.3
p.S87delFs
c.261delC
5 papers
NM_000452.3
p.F296L
c.886T>C
5 papers
NM_000452.3
p.F296L
c.888C>G
5 papers
NM_000452.3
p.F296L
c.888C>A
4 papers
NM_000452.3
p.P65L
c.194C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."