Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.V235M

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
19 papers
NM_006517.5
p.V235M
c.703G>A
Surrounding Variants
3 papers
NM_006517.5
p.V235L
c.703G>C
3 papers
NM_006517.5
p.V235L
c.703G>T
2 papers
NM_006517.5
p.V235A
c.704T>C
1 paper
NM_006517.5
p.V234M
c.700G>A
1 paper
NM_006517.5
p.S236A
c.706T>G
1 paper
NM_006517.5
p.S236ins1
c.706_707insGTG
1 paper
NM_006517.5
p.G233C
c.697G>T
2 papers
NM_006517.5
p.N232fs
c.694_695fs
3 papers
NM_006517.5
p.N232_G233delFs
c.695_699del5
2 papers
NM_006517.5
p.G238R
c.712G>A
2 papers
NM_006517.5
p.G238R
c.712G>C
2 papers
NM_006517.5
p.S239R
c.715A>C
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."