Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.G295R

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.G295R
c.883G>C
Surrounding Variants
4 papers
NM_006517.5
p.G295S
c.883G>A
1 paper
NM_006517.5
p.G295A
c.884G>C
1 paper
NM_006517.5
p.R294K
c.881G>A
1 paper
NM_006517.5
p.R294*
c.880A>T
1 paper
NM_006517.5
p.T298_Q301delFs
c.894_903del10
1 paper
NM_006517.5
p.L299M
c.895C>A
4 papers
NM_006517.5
p.T290I
c.869C>T
1 paper
NM_006517.5
p.H300L
c.899A>T
2 papers
NM_006517.5
p.Q288fs
c.862_863fs
3 papers
NM_006517.5
p.L304P
c.911T>C
2 papers
NM_006517.5
p.L284_Q288insFs
c.852_862dup11
7 papers
NM_006517.5
p.Q306*
c.916C>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."