Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.V218I

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.V218I
c.652G>A
Surrounding Variants
1 paper
NM_006517.5
p.L217R
c.650T>G
1 paper
NM_006517.5
p.S216F
c.647C>T
3 papers
NM_006517.5
p.L217insFs
c.649_650insC
1 paper
NM_006517.5
p.L217delFs
c.649delC
3 papers
NM_006517.5
p.P215L
c.644C>T
10 papers
NM_006517.5
p.G221S
c.661G>A
14 papers
NM_006517.5
p.G221R
c.661G>C
1 paper
NM_006517.5
p.G221C
c.661G>T
1 paper
NM_006517.5
p.G221D
c.662G>A
1 paper
NM_006517.5
p.G221A
c.662G>C
2 papers
NM_006517.5
p.Q214insFs
c.641_642insC
1 paper
NM_006517.5
p.Y223Y
c.669C>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."