Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.V416F

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.V416F
c.1246G>T
Surrounding Variants
1 paper
NM_006517.5
p.V416_C417del2
c.1246_1250del6
1 paper
NM_006517.5
p.C417Y
c.1250G>A
1 paper
NM_006517.5
p.C417_L418insFs
c.1251_1252insG
1 paper
NM_006517.5
p.L418P
c.1253T>C
2 papers
NM_006517.5
p.L413fs
c.1237_1238fs
2 papers
NM_006517.5
p.G412insFs
c.1235dupG
2 papers
NM_006517.5
p.G421A
c.1262G>C
4 papers
NM_006517.5
p.L422R
c.1265T>G
1 paper
NM_006517.5
p.F410_C423del14
c.1228_1268del42
5 papers
NM_006517.5
p.D424N
c.1270G>A
1 paper
NM_006517.5
p.D424H
c.1270G>C
1 paper
NM_006517.5
p.C407_R408insG
c.1219_1223ins3
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