Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.M517R

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.M517R
c.1550T>G
Surrounding Variants
1 paper
NM_006517.5
p.A519delFs
c.1556delC
1 paper
NM_006517.5
p.A519D
c.1556C>A
1 paper
NM_006517.5
p.A519V
c.1556C>T
4 papers
NM_006517.5
p.P520S
c.1558C>T
1 paper
NM_006517.5
p.P520_D521insFs
c.1560_1561ins4
2 papers
NM_006517.5
p.N525S
c.1574A>G
1 paper
NM_006517.5
p.K507N
c.1521A>C
1 paper
NM_006517.5
p.K507N
c.1521A>T
2 papers
NM_006517.5
p.L528delFs
c.1583delT
1 paper
NM_006517.5
p.P530P
c.1590G>A
1 paper
NM_006517.5
p.Q502L
c.1505A>T
1 paper
NM_006517.5
p.H501R
c.1502A>G
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