Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.M252L

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.M252L
c.754A>T
Surrounding Variants
1 paper
NM_006517.5
p.D255insFs
c.763dupG
1 paper
NM_006517.5
p.I250_R251insFs
c.750_751insC
1 paper
NM_006517.5
p.L249_I250insFs
c.747_748ins5
1 paper
NM_006517.5
p.D255_K258del0
c.765_773del9
1 paper
NM_006517.5
p.P247L
c.740C>T
1 paper
NM_006517.5
p.F246L
c.738C>G
3 papers
NM_006517.5
p.S245_G254insFs
c.735_760dup26
2 papers
NM_006517.5
p.M244delFs
c.731delT
1 paper
NM_006517.5
p.Q261delFs
c.781delC
3 papers
NM_006517.5
p.Q261*
c.781C>T
1 paper
NM_006517.5
p.Q261fs
c.781_782fs
1 paper
NM_006517.5
p.F242V
c.724T>G
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