Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A12
Variant:p.W17G

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
3 papers
NM_213606.4
p.W17G
c.49T>G
Surrounding Variants
1 paper
NM_213606.4
p.K24R
c.71A>G
2 papers
NM_213606.4
p.A9V
c.26C>T
1 paper
NM_213606.4
p.T8T
c.24A>G
1 paper
NM_213606.4
p.W7*
c.21G>A
1 paper
NM_213606.4
p.W7*
c.20G>A
1 paper
NM_213606.4
p.H6H
c.18C>T
3 papers
NM_213606.4
p.H6R
c.17A>G
1 paper
NM_213606.4
p.M31T
c.92T>C
1 paper
NM_213606.4
p.M31I
c.93G>A
1 paper
NM_213606.4
p.P2S
c.4C>T
1 paper
NM_213606.4
p.M1K
c.2T>A
1 paper
NM_213606.4
p.R36S
c.108A>T
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