Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.L528delFs

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
2 papers
NM_006517.5
p.L528delFs
c.1583delT
Surrounding Variants
2 papers
NM_006517.5
p.N525S
c.1574A>G
1 paper
NM_006517.5
p.P530P
c.1590G>A
1 paper
NM_006517.5
p.P535_P538delFs
c.1604_1613del10
1 paper
NM_006517.5
p.P535delFs
c.1604delC
1 paper
NM_006517.5
p.P520_D521insFs
c.1560_1561ins4
4 papers
NM_006517.5
p.P520S
c.1558C>T
1 paper
NM_006517.5
p.A519D
c.1556C>A
1 paper
NM_006517.5
p.A519V
c.1556C>T
1 paper
NM_006517.5
p.A519delFs
c.1556delC
3 papers
NM_006517.5
p.P538del1
c.1612_1613delCCA
1 paper
NM_006517.5
p.P538delFs
c.1613delC
1 paper
NM_006517.5
p.P538A
c.1612C>G
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