Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.R317H

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.R317H
c.950G>A
Surrounding Variants
1 paper
NM_006517.5
p.R317S
c.949C>A
1 paper
NM_006517.5
p.Q318H
c.954A>T
1 paper
NM_006517.5
p.V315fs
c.943_944fs
1 paper
NM_006517.5
p.V315fs
c.943_944fs
1 paper
NM_006517.5
p.T320_A332del0
c.960_995del36
1 paper
NM_006517.5
p.R314Q
c.941G>A
3 papers
NM_006517.5
p.R314delFs
c.942delA
4 papers
NM_006517.5
p.R314*
c.940C>T
1 paper
NM_006517.5
p.M313T
c.938T>C
1 paper
NM_006517.5
p.M313V
c.937A>G
2 papers
NM_006517.5
p.R322insFs
c.966dupC
1 paper
NM_006517.5
p.I323fs
c.967_968fs
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