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

19 papers

NM_001013251.3

p.D175N

c.523G>A

Surrounding Variants

1 paper

NM_001013251.3

p.D175A

c.524A>C

1 paper

NM_001013251.3

p.T174insFs

c.521_522insT

1 paper

NM_001013251.3

p.T174S

c.521C>G

1 paper

NM_001013251.3

p.T174insFs

c.520_521insT

2 papers

NM_001013251.3

p.T174A

c.520A>G

1 paper

NM_001013251.3

p.L176M

c.526T>A

2 papers

NM_001013251.3

p.L176F

c.528G>C

2 papers

NM_001013251.3

p.L176F

c.528G>T

1 paper

NM_001013251.3

p.Q178_L192delFs

c.532_574del43

1 paper

NM_001013251.3

p.A172T

c.514G>A

1 paper

NM_001013251.3

p.A172insFs

c.515dupC

1 paper

NM_001013251.3

p.A172S

c.514G>T