Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.G13E

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.G13E
c.38G>A
Surrounding Variants
1 paper
NM_006517.5
p.G13W
c.37G>T
4 papers
NM_006517.5
p.P14delFs
c.42delC
2 papers
NM_006517.5
p.W15fs
c.43_44fs
1 paper
NM_006517.5
p.A11insFs
c.33dupA
1 paper
NM_006517.5
p.W15*
c.44G>A
1 paper
NM_006517.5
p.A11T
c.31G>A
1 paper
NM_006517.5
p.W15*
c.45G>A
2 papers
NM_006517.5
p.Q16delFs
c.46delC
1 paper
NM_006517.5
p.Q16*
c.46C>T
2 papers
NM_006517.5
p.A7V
c.20C>T
1 paper
NM_006517.5
p.A7P
c.19G>C
4 papers
NM_006517.5
p.E21*
c.61G>T
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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."