Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.Y339F

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.Y339F
c.1016A>T
Surrounding Variants
1 paper
NM_006517.5
p.Y339_L342ins1
c.1017_1025dup9
1 paper
NM_006517.5
p.P338S
c.1012C>T
1 paper
NM_006517.5
p.H341H
c.1023C>T
1 paper
NM_006517.5
p.V337I
c.1009G>A
2 papers
NM_006517.5
p.L342P
c.1025T>C
1 paper
NM_006517.5
p.L342L
c.1026G>A
4 papers
NM_006517.5
p.L342_M343Splc
c.1026+1G>A
1 paper
NM_006517.5
p.Y335F
c.1004A>T
3 papers
NM_006517.5
p.A330_A331insFs
c.990_991ins5
1 paper
NM_006517.5
p.A330delFs
c.990delT
2 papers
NM_006517.5
p.A329insFs
c.985_986insG
1 paper
NM_006517.5
p.G327E
c.980G>A
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