Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.E54*

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.E54*
c.160G>T
Surrounding Variants
1 paper
NM_006517.5
p.E54insFs
c.161dupA
1 paper
NM_006517.5
p.P55P
c.165C>G
1 paper
NM_006517.5
p.P51insFs
c.152_153ins2
1 paper
NM_006517.5
p.P57T
c.169C>A
1 paper
NM_006517.5
p.P51insFs
c.152_153insTC
1 paper
NM_006517.5
p.L58I
c.172C>A
3 papers
NM_006517.5
p.E50*
c.148G>T
1 paper
NM_006517.5
p.P59delFs
c.175delC
1 paper
NM_006517.5
p.P61delFs
c.182delC
1 paper
NM_006517.5
p.P48insFs
c.143dupC
1 paper
NM_006517.5
p.L64insFs
c.190dupC
1 paper
NM_006517.5
p.L64Q
c.191T>A
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