Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.Q306R

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.Q306R
c.917A>G
Surrounding Variants
7 papers
NM_006517.5
p.Q306*
c.916C>T
3 papers
NM_006517.5
p.L304P
c.911T>C
1 paper
NM_006517.5
p.H300L
c.899A>T
1 paper
NM_006517.5
p.M313V
c.937A>G
1 paper
NM_006517.5
p.M313T
c.938T>C
1 paper
NM_006517.5
p.L299M
c.895C>A
4 papers
NM_006517.5
p.R314*
c.940C>T
1 paper
NM_006517.5
p.T298_Q301delFs
c.894_903del10
1 paper
NM_006517.5
p.R314Q
c.941G>A
3 papers
NM_006517.5
p.R314delFs
c.942delA
1 paper
NM_006517.5
p.V315fs
c.943_944fs
1 paper
NM_006517.5
p.V315fs
c.943_944fs
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