Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.N136insFs

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
4 papers
NM_006517.5
p.N136insFs
c.407dupA
Surrounding Variants
1 paper
NM_006517.5
p.N136fs
c.406_407fs
1 paper
NM_006517.5
p.N136insFs
c.407_408insG
1 paper
NM_006517.5
p.N136insFs
c.407_408ins1
1 paper
NM_006517.5
p.R137_F141delFs
c.410_423del14
1 paper
NM_006517.5
p.Q138E
c.412C>G
1 paper
NM_006517.5
p.Q138*
c.412C>T
1 paper
NM_006517.5
p.V139delFs
c.416_417delTG
1 paper
NM_006517.5
p.L129P
c.386T>C
1 paper
NM_006517.5
p.L128Q
c.383T>A
1 paper
NM_006517.5
p.L124_Y125insFs
c.372_373dupCT
1 paper
NM_006517.5
p.A144Splc
c.430+1G>A
1 paper
NM_006517.5
p.A144Splc
c.430+1G>C
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