Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.V104del1

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.V104del1
c.310_312delGTG
Surrounding Variants
1 paper
NM_006517.5
p.W101*
c.303G>A
1 paper
NM_006517.5
p.W101_V103insFs
c.303_307dup5
1 paper
NM_006517.5
p.V102insFs
c.305dupT
1 paper
NM_006517.5
p.V103M
c.307G>A
1 paper
NM_006517.5
p.V103L
c.307G>C
1 paper
NM_006517.5
p.V103fs
c.307_308fs
1 paper
NM_006517.5
p.V104E
c.311T>A
1 paper
NM_006517.5
p.V104V
c.312G>A
1 paper
NM_006517.5
p.F105Y
c.314T>A
1 paper
NM_006517.5
p.E96*
c.286G>T
1 paper
NM_006517.5
p.A106A
c.318T>A
3 papers
NM_006517.5
p.P95T
c.283C>A
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