Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.T165P

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.T165P
c.493A>C
Surrounding Variants
2 papers
NM_006517.5
p.T165fs
c.493_494fs
2 papers
NM_006517.5
p.T165insFs
c.493dupA
1 paper
NM_006517.5
p.R167C
c.499C>T
2 papers
NM_006517.5
p.R171_V180delFs
c.513_538del26
3 papers
NM_006517.5
p.V161M
c.481G>A
1 paper
NM_006517.5
p.V161ins0
c.481_483dupGTG
5 papers
NM_006517.5
p.R171*
c.511C>T
1 paper
NM_006517.5
p.S158F
c.473C>T
1 paper
NM_006517.5
p.I172fs
c.514_515fs
1 paper
NM_006517.5
p.S158_P159delFs
c.474_475delTC
2 papers
NM_006517.5
p.T173I
c.518C>T
3 papers
NM_006517.5
p.F156del1
c.466_467delTTC
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