Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.A435_L438insFs

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.A435_L438insFs
c.1305_1312dup8
Surrounding Variants
4 papers
NM_006517.5
p.I434S
c.1301T>G
3 papers
NM_006517.5
p.F436delFs
c.1306delT
1 paper
NM_006517.5
p.A432insFs
c.1296dupC
1 paper
NM_006517.5
p.A432_A435delFs
c.1294_1303del10
1 paper
NM_006517.5
p.L438P
c.1313T>C
1 paper
NM_006517.5
p.M442T
c.1325T>C
1 paper
NM_006517.5
p.M442_Q443insFs
c.1326_1327insC
1 paper
NM_006517.5
p.G425D
c.1274G>A
1 paper
NM_006517.5
p.F427del1
c.1279_1281delTTC
1 paper
NM_006517.5
p.S445_Q446insFs
c.1334_1337dup4
1 paper
NM_006517.5
p.S445L
c.1334C>T
5 papers
NM_006517.5
p.D424N
c.1270G>A
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