Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A12
Variant:p.G46V

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.G46V
c.137G>T
Surrounding Variants
1 paper
NM_213606.4
p.G46S
c.136G>A
2 papers
NM_213606.4
p.G45A
c.134G>C
1 paper
NM_213606.4
p.G48S
c.142G>A
2 papers
NM_213606.4
p.D44N
c.130G>A
1 paper
NM_213606.4
p.W49S
c.146G>C
1 paper
NM_213606.4
p.M50insFs
c.149dupT
1 paper
NM_213606.4
p.T40_S41del2
c.118_122del6
1 paper
NM_213606.4
p.I51V
c.151A>G
1 paper
NM_213606.4
p.S39C
c.116C>G
1 paper
NM_213606.4
p.A53A
c.159T>C
1 paper
NM_213606.4
p.R38Q
c.113G>A
1 paper
NM_213606.4
p.R36S
c.108A>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."