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.E16D

c.48G>T

Surrounding Variants

1 paper

NM_001013251.3

p.E16D

c.48G>C

1 paper

NM_001013251.3

p.E16A

c.47A>C

1 paper

NM_001013251.3

p.E16Q

c.46G>C

1 paper

NM_001013251.3

p.L17delFs

c.51delA

1 paper

NM_001013251.3

p.L17L

c.51A>G

2 papers

NM_001013251.3

p.N15K

c.45T>G

1 paper

NM_001013251.3

p.N15insFs

c.44_45insG

2 papers

NM_001013251.3

p.E18V

c.53A>T

2 papers

NM_001013251.3

p.E18E

c.54G>A

1 paper

NM_001013251.3

p.P19insFs

c.56_57ins13

1 paper

NM_001013251.3

p.L14Q

c.41T>A

1 paper

NM_001013251.3

p.L14insFs

c.41_42ins5