Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.I404delFs

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
7 papers
NM_006517.5
p.I404delFs
c.1212delT
Surrounding Variants
1 paper
NM_006517.5
p.M402I
c.1206G>A
1 paper
NM_006517.5
p.M402I
c.1206G>C
1 paper
NM_006517.5
p.M402I
c.1206G>T
1 paper
NM_006517.5
p.M402L
c.1204A>C
1 paper
NM_006517.5
p.M402L
c.1204A>T
1 paper
NM_006517.5
p.C407_R408insG
c.1219_1223ins3
1 paper
NM_006517.5
p.F410_C423del14
c.1228_1268del42
1 paper
NM_006517.5
p.G398V
c.1193G>T
2 papers
NM_006517.5
p.G412insFs
c.1235dupG
4 papers
NM_006517.5
p.L397P
c.1190T>C
1 paper
NM_006517.5
p.L397R
c.1190T>G
1 paper
NM_006517.5
p.L396L
c.1188C>A
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