Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.R171*

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
5 papers
NM_006517.5
p.R171*
c.511C>T
Surrounding Variants
1 paper
NM_006517.5
p.I172fs
c.514_515fs
2 papers
NM_006517.5
p.T173I
c.518C>T
2 papers
NM_006517.5
p.R171_V180delFs
c.513_538del26
1 paper
NM_006517.5
p.R167C
c.499C>T
1 paper
NM_006517.5
p.A178insFs
c.532dupG
1 paper
NM_006517.5
p.A178delFs
c.532delG
1 paper
NM_006517.5
p.T165P
c.493A>C
2 papers
NM_006517.5
p.T165fs
c.493_494fs
1 paper
NM_006517.5
p.G177R
c.529G>A
2 papers
NM_006517.5
p.T165insFs
c.493dupA
1 paper
NM_006517.5
p.G177E
c.530G>A
4 papers
NM_006517.5
p.A178P
c.532G>C
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