Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.G116D

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.G116D
c.347G>A
Surrounding Variants
1 paper
NM_006517.5
p.I117delFs
c.351delC
1 paper
NM_006517.5
p.H118R
c.353A>G
2 papers
NM_006517.5
p.I114N
c.341T>A
1 paper
NM_006517.5
p.N119T
c.356A>C
1 paper
NM_006517.5
p.I114ins0
c.340_342dupATC
1 paper
NM_006517.5
p.N119K
c.357C>A
1 paper
NM_006517.5
p.N119K
c.357C>G
2 papers
NM_006517.5
p.S120F
c.359C>T
1 paper
NM_006517.5
p.G122E
c.365G>A
3 papers
NM_006517.5
p.G122V
c.365G>T
1 paper
NM_006517.5
p.L124_S126delFs
c.371_378del8
1 paper
NM_006517.5
p.L124_Y125insFs
c.372_373dupCT
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