Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.P43delFs

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.P43delFs
c.129delC
Surrounding Variants
1 paper
NM_006517.5
p.E42K
c.124G>A
1 paper
NM_006517.5
p.P43ins2
c.127_128ins6
1 paper
NM_006517.5
p.E42*
c.124G>T
1 paper
NM_006517.5
p.P41delFs
c.123delC
1 paper
NM_006517.5
p.E40*
c.118G>T
1 paper
NM_006517.5
p.P48insFs
c.143dupC
3 papers
NM_006517.5
p.E50*
c.148G>T
1 paper
NM_006517.5
p.P51insFs
c.152_153insTC
1 paper
NM_006517.5
p.P51insFs
c.152_153ins2
2 papers
NM_006517.5
p.S33insFs
c.99dupT
5 papers
NM_006517.5
p.S33P
c.97T>C
1 paper
NM_006517.5
p.S33insFs
c.97dupT
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