Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.F182L

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.F182L
c.546C>A
Surrounding Variants
1 paper
NM_006517.5
p.A181D
c.542C>A
1 paper
NM_006517.5
p.A181G
c.542C>G
1 paper
NM_006517.5
p.A181V
c.542C>T
1 paper
NM_006517.5
p.A181T
c.541G>A
5 papers
NM_006517.5
p.A181P
c.541G>C
1 paper
NM_006517.5
p.A181S
c.541G>T
1 paper
NM_006517.5
p.V180I
c.538G>A
4 papers
NM_006517.5
p.A178P
c.532G>C
1 paper
NM_006517.5
p.T187T
c.561C>T
1 paper
NM_006517.5
p.G177E
c.530G>A
1 paper
NM_006517.5
p.G177R
c.529G>A
1 paper
NM_006517.5
p.A178insFs
c.532dupG
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