Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.E66Q

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.E66Q
c.196G>C
Surrounding Variants
1 paper
NM_006517.5
p.E66K
c.196G>A
1 paper
NM_006517.5
p.E66*
c.196G>T
2 papers
NM_006517.5
p.P65fs
c.193_194fs
3 papers
NM_006517.5
p.P65delFs
c.194delC
1 paper
NM_006517.5
p.L64Q
c.191T>A
1 paper
NM_006517.5
p.E68*
c.202G>T
1 paper
NM_006517.5
p.L64insFs
c.190dupC
2 papers
NM_006517.5
p.E70Q
c.208G>C
1 paper
NM_006517.5
p.P61delFs
c.182delC
1 paper
NM_006517.5
p.E72A
c.215A>C
1 paper
NM_006517.5
p.P59delFs
c.175delC
1 paper
NM_006517.5
p.L58I
c.172C>A
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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."