Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A12
Variant:p.A135V

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.A135V
c.404C>T
Surrounding Variants
2 papers
NM_213606.4
p.T136M
c.407C>T
1 paper
NM_213606.4
p.H140L
c.419A>T
1 paper
NM_213606.4
p.V107I
c.319G>A
1 paper
NM_213606.4
p.P103_L104del1
c.309_311delAGT
1 paper
NM_213606.4
p.F153L
c.457T>C
1 paper
NM_213606.4
p.F153L
c.459T>G
1 paper
NM_213606.4
p.F153L
c.459T>A
1 paper
NM_213606.4
p.L151_A154insFs
c.452_461dup10
4 papers
NM_213606.4
p.S158P
c.472T>C
1 paper
NM_213606.4
p.I178I
c.534C>T
1 paper
NM_213606.4
p.I189T
c.566T>C
1 paper
NM_213606.4
p.I198V
c.592A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."