Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A12
Variant:p.I198V

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.I198V
c.592A>G
Surrounding Variants
1 paper
NM_213606.4
p.W203R
c.607T>C
1 paper
NM_213606.4
p.W203R
c.607T>A
1 paper
NM_213606.4
p.R204W
c.610C>T
1 paper
NM_213606.4
p.R204Q
c.611G>A
1 paper
NM_213606.4
p.G205V
c.614G>T
1 paper
NM_213606.4
p.I189T
c.566T>C
1 paper
NM_213606.4
p.L215F
c.645G>T
1 paper
NM_213606.4
p.L215F
c.645G>C
1 paper
NM_213606.4
p.I178I
c.534C>T
1 paper
NM_213606.4
p.V219A
c.656T>C
1 paper
NM_213606.4
p.V214_V219delFs
c.640_656del17
1 paper
NM_213606.4
p.G221R
c.661G>C
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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."