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.W118*

c.353G>A

Surrounding Variants

1 paper

NM_001013251.3

p.W118R

c.352T>A

1 paper

NM_001013251.3

p.W118R

c.352T>C

1 paper

NM_001013251.3

p.W117*

c.350G>A

1 paper

NM_001013251.3

p.K116K

c.348G>A

1 paper

NM_001013251.3

p.T120T

c.360G>A

2 papers

NM_001013251.3

p.G121D

c.362G>A

1 paper

NM_001013251.3

p.G121A

c.362G>C

1 paper

NM_001013251.3

p.G121delFs

c.363delC

1 paper

NM_001013251.3

p.Q115K

c.343C>A

1 paper

NM_001013251.3

p.G121G

c.363C>G

1 paper

NM_001013251.3

p.G121G

c.363C>T

1 paper

NM_001013251.3

p.A114V

c.341C>T