Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A12
Variant:p.P299L

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
Selected Variant
1 paper
NM_213606.4
p.P299L
c.896C>T
Surrounding Variants
1 paper
NM_213606.4
p.V302A
c.905T>C
1 paper
NM_213606.4
p.L309_V311del0
c.927_932del6
1 paper
NM_213606.4
p.G312R
c.934G>C
1 paper
NM_213606.4
p.G312R
c.934G>A
1 paper
NM_213606.4
p.L309_V311del3
c.925_932del9
1 paper
NM_213606.4
p.D282N
c.844G>A
1 paper
NM_213606.4
p.Y275*
c.825C>G
1 paper
NM_213606.4
p.Y275*
c.825C>A
1 paper
NM_213606.4
p.Q273*
c.817C>T
1 paper
NM_213606.4
p.G326R
c.976G>A
1 paper
NM_213606.4
p.G326fs
c.976_977fs
1 paper
NM_213606.4
p.G326delFs
c.977delC
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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."