Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.W324*

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
1 paper
NM_006517.5
p.W324*
c.971G>A
Surrounding Variants
1 paper
NM_006517.5
p.W324*
c.972G>A
1 paper
NM_006517.5
p.W324R
c.970T>A
1 paper
NM_006517.5
p.W324R
c.970T>C
1 paper
NM_006517.5
p.I323fs
c.967_968fs
2 papers
NM_006517.5
p.R322insFs
c.966dupC
4 papers
NM_006517.5
p.G327R
c.979G>A
4 papers
NM_006517.5
p.G327R
c.979G>C
1 paper
NM_006517.5
p.G327E
c.980G>A
1 paper
NM_006517.5
p.T320_A332del0
c.960_995del36
2 papers
NM_006517.5
p.A329insFs
c.985_986insG
1 paper
NM_006517.5
p.Q318H
c.954A>T
1 paper
NM_006517.5
p.A330delFs
c.990delT
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."