Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.T279T

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.T279T
c.837C>T
Surrounding Variants
1 paper
NM_006517.5
p.T279_R281insFs
c.837_841dup5
1 paper
NM_006517.5
p.Y280C
c.839A>G
1 paper
NM_006517.5
p.S277L
c.830C>T
2 papers
NM_006517.5
p.L284_Q288insFs
c.852_862dup11
1 paper
NM_006517.5
p.L273del1
c.817_819delCTT
2 papers
NM_006517.5
p.Q288fs
c.862_863fs
1 paper
NM_006517.5
p.M270_F271del2
c.808_812del6
4 papers
NM_006517.5
p.T290I
c.869C>T
1 paper
NM_006517.5
p.L266delFs
c.796delC
1 paper
NM_006517.5
p.R294*
c.880A>T
1 paper
NM_006517.5
p.R294K
c.881G>A
1 paper
NM_006517.5
p.Q264P
c.791A>C
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