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

1–12 of 799 variants

19 papers

NM_001013251.3

p.D175N

c.523G>A

9 papers

NM_001013251.3

p.C109S

c.325T>A

9 papers

NM_001013251.3

p.C109S

c.326G>C

8 papers

NM_001013251.3

p.A57G

c.170C>G

6 papers

NM_001013251.3

p.K70T

c.209A>C

5 papers

NM_001013251.3

p.G142D

c.425G>A

5 papers

NM_001013251.3

p.C330S

c.988T>A

5 papers

NM_001013251.3

p.C330S

c.989G>C

4 papers

NM_001013251.3

p.M1I

c.3G>T

4 papers

NM_001013251.3

p.T5S

c.13A>T

4 papers

NM_001013251.3

p.K10R

c.29A>G

4 papers

NM_001013251.3

p.G41S

c.121G>A