Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.Q214insFs

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.Q214insFs
c.641_642insC
Surrounding Variants
3 papers
NM_006517.5
p.P215L
c.644C>T
3 papers
NM_006517.5
p.L217insFs
c.649_650insC
1 paper
NM_006517.5
p.L217delFs
c.649delC
1 paper
NM_006517.5
p.S216F
c.647C>T
1 paper
NM_006517.5
p.L217R
c.650T>G
2 papers
NM_006517.5
p.S210_F211insFs
c.630_631insA
2 papers
NM_006517.5
p.S210_F211insFs
c.630_631insG
2 papers
NM_006517.5
p.V218I
c.652G>A
3 papers
NM_006517.5
p.S210insFs
c.629_630insA
1 paper
NM_006517.5
p.S210insFs
c.629_630insC
3 papers
NM_006517.5
p.G208D
c.623G>A
2 papers
NM_006517.5
p.G208delins
c.623_624delinsAA
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