Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A12
Variant:p.L373F

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
2 papers
NM_213606.4
p.L373F
c.1117C>T
Surrounding Variants
1 paper
NM_213606.4
p.P374S
c.1120C>T
1 paper
NM_213606.4
p.V377M
c.1129G>A
1 paper
NM_213606.4
p.D387G
c.1160A>G
1 paper
NM_213606.4
p.A356T
c.1066G>A
1 paper
NM_213606.4
p.P395A
c.1183C>G
1 paper
NM_213606.4
p.P395Q
c.1184C>A
1 paper
NM_213606.4
p.Y348C
c.1043A>G
1 paper
NM_213606.4
p.T404I
c.1211C>T
2 papers
NM_213606.4
p.S406C
c.1217C>G
1 paper
NM_213606.4
p.A410A
c.1230G>A
1 paper
NM_213606.4
p.A419T
c.1255G>A
1 paper
NM_213606.4
p.N333D
c.997A>G
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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."