Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A12

SLC16A12

67 papers

RefSeq Summary

This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal ...

Pfam Domains

MFS_1aa 55–359UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 16 member 12

HGNC Alias Symbols

MCT12; CRT2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
4 papers
NM_213606.4
p.S158P
c.472T>C
3 papers
NM_213606.4
p.H6R
c.17A>G
3 papers
NM_213606.4
p.W17G
c.49T>G
2 papers
NM_213606.4
p.A9V
c.26C>T
2 papers
NM_213606.4
p.D44N
c.130G>A
2 papers
NM_213606.4
p.G45A
c.134G>C
2 papers
NM_213606.4
p.T87K
c.260C>A
2 papers
NM_213606.4
p.A135V
c.404C>T
2 papers
NM_213606.4
p.T136M
c.407C>T
2 papers
NM_213606.4
p.L373F
c.1117C>T
2 papers
NM_213606.4
p.S406C
c.1217C>G
1 paper
NM_213606.4
p.M1K
c.2T>A
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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."