Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.F480_Y481del1

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.F480_Y481del1
c.1439_1441delTCT
Surrounding Variants
1 paper
NM_006517.5
p.A479D
c.1436C>A
1 paper
NM_006517.5
p.F480S
c.1439T>C
1 paper
NM_006517.5
p.Y476delFs
c.1427delA
2 papers
NM_006517.5
p.G484D
c.1451G>A
1 paper
NM_006517.5
p.G474_D475del2
c.1420_1424del6
2 papers
NM_006517.5
p.V485delFs
c.1455delG
1 paper
NM_006517.5
p.P487insFs
c.1461dupC
2 papers
NM_006517.5
p.P487delFs
c.1461delC
1 paper
NM_006517.5
p.P487del1
c.1459_1461delCCC
1 paper
NM_006517.5
p.C472fs
c.1414_1415fs
1 paper
NM_006517.5
p.C472delFs
c.1414delT
2 papers
NM_006517.5
p.I488fs
c.1462_1463fs
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