Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A12
Variant:p.E75V

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.E75V
c.224A>T
Surrounding Variants
1 paper
NM_213606.4
p.F76L
c.226T>C
1 paper
NM_213606.4
p.F76L
c.228C>G
1 paper
NM_213606.4
p.F76L
c.228C>A
1 paper
NM_213606.4
p.F73fs
c.217_218fs
1 paper
NM_213606.4
p.I71T
c.212T>C
1 paper
NM_213606.4
p.C68Y
c.203G>A
2 papers
NM_213606.4
p.T87K
c.260C>A
1 paper
NM_213606.4
p.T87T
c.261G>A
1 paper
NM_213606.4
p.M99V
c.295A>G
1 paper
NM_213606.4
p.T98insFs
c.294dupC
1 paper
NM_213606.4
p.P103_L104del1
c.309_311delAGT
1 paper
NM_213606.4
p.V107I
c.319G>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."