Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.P79S

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.P79S
c.235C>T
Surrounding Variants
2 papers
NM_006517.5
p.E78*
c.232G>T
1 paper
NM_006517.5
p.P77P
c.231C>A
1 paper
NM_006517.5
p.P77delFs
c.231delC
11 papers
NM_006517.5
p.H75L
c.224A>T
1 paper
NM_006517.5
p.E84*
c.250G>T
1 paper
NM_006517.5
p.V74fs
c.220_221fs
1 paper
NM_006517.5
p.V74Fs
c.220_222delinsTTFs
1 paper
NM_006517.5
p.E72A
c.215A>C
1 paper
NM_006517.5
p.G87R
c.259G>C
2 papers
NM_006517.5
p.E70Q
c.208G>C
1 paper
NM_006517.5
p.R90_G91delFs
c.270_271delCG
2 papers
NM_006517.5
p.R90C
c.268C>T
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."