Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.I465insFs

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.I465insFs
c.1393_1394insC
Surrounding Variants
2 papers
NM_006517.5
p.I465fs
c.1393_1394fs
1 paper
NM_006517.5
p.P464L
c.1391C>T
2 papers
NM_006517.5
p.P464S
c.1390C>T
2 papers
NM_006517.5
p.P463L
c.1388C>T
2 papers
NM_006517.5
p.G467S
c.1399G>A
1 paper
NM_006517.5
p.G467C
c.1399G>T
1 paper
NM_006517.5
p.G467Splc
c.1399+1G>A
2 papers
NM_006517.5
p.P464insFs
c.1392dupC
3 papers
NM_006517.5
p.P464del1
c.1390_1392delCCC
1 paper
NM_006517.5
p.G467Splc
c.1399+2T>C
2 papers
NM_006517.5
p.G462R
c.1384G>A
1 paper
NM_006517.5
p.A461_P463del3
c.1381_1388del9
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