Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.R371L

SLC16A2

248 papers

RefSeq Summary

This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), re...

Pfam Domains

MFS_1aa 99–441UCSCMajor Facilitator Superfamily
MFS_1aa 409–524UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 16 member 2

HGNC Previous Symbols

DXS128; AHDS; MRX22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006517.5
p.R371L
c.1112G>T
Surrounding Variants
1 paper
NM_006517.5
p.R371H
c.1112G>A
1 paper
NM_006517.5
p.R371S
c.1111C>A
3 papers
NM_006517.5
p.L372_S374insFs
c.1115_1121dup7
6 papers
NM_006517.5
p.R371C
c.1111C>T
1 paper
NM_006517.5
p.R371_S378del8
c.1111_1133del24
1 paper
NM_006517.5
p.S374insFs
c.1121_1122ins4
1 paper
NM_006517.5
p.S374*
c.1121C>A
1 paper
NM_006517.5
p.S374insFs
c.1121_1122ins4
1 paper
NM_006517.5
p.S374*
c.1121C>G
1 paper
NM_006517.5
p.G375fs
c.1123_1124fs
1 paper
NM_006517.5
p.G375fs
c.1123_1124fs
1 paper
NM_006517.5
p.S367*
c.1100C>A
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."