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.L42V

c.124C>G

Surrounding Variants

2 papers

NM_001013251.3

p.G41G

c.123T>A

4 papers

NM_001013251.3

p.G41S

c.121G>A

1 paper

NM_001013251.3

p.N40K

c.120T>A

1 paper

NM_001013251.3

p.V43G

c.128T>G

1 paper

NM_001013251.3

p.N40D

c.118A>G

1 paper

NM_001013251.3

p.K44E

c.130A>G

1 paper

NM_001013251.3

p.K44M

c.131A>T

1 paper

NM_001013251.3

p.K39K

c.117G>A

1 paper

NM_001013251.3

p.K39N

c.117G>C

1 paper

NM_001013251.3

p.N40insFs

c.119dupA

1 paper

NM_001013251.3

p.K44N

c.132G>C

1 paper

NM_001013251.3

p.K39Q

c.115A>C