Varaico: Literature-Extracted Genetic Variants

SLC3A2

1,928 papers

RefSeq Summary

This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds ...

Pfam Domains

SLC3A2_Naa 145–225UCSCSolute carrier family 3 member 2 N-terminus

Alpha-amylaseaa 229–332UCSCAlpha amylase, catalytic domain

Gene Aliases

HGNC Name

solute carrier family 3 member 2

HGNC Previous Symbol

MDU1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001013251.3

p.P181P

c.543C>T

Surrounding Variants

1 paper

NM_001013251.3

p.N182D

c.544A>G

1 paper

NM_001013251.3

p.P181A

c.541C>G

1 paper

NM_001013251.3

p.P181S

c.541C>T

1 paper

NM_001013251.3

p.D180A

c.539A>C

1 paper

NM_001013251.3

p.D180G

c.539A>G

1 paper

NM_001013251.3

p.F183I

c.547T>A

1 paper

NM_001013251.3

p.F183S

c.548T>C

1 paper

NM_001013251.3

p.I179I

c.537C>T

2 papers

NM_001013251.3

p.G184S

c.550G>A

1 paper

NM_001013251.3

p.G184A

c.551G>C

1 paper

NM_001013251.3

p.Q178insFs

c.533_534insT

2 papers

NM_001013251.3

p.S185P

c.553T>C