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

2 papers

NM_001013251.3

p.R79G

c.235C>G

Surrounding Variants

3 papers

NM_001013251.3

p.R79C

c.235C>T

3 papers

NM_001013251.3

p.V78V

c.234A>T

1 paper

NM_001013251.3

p.R79delFs

c.235delC

2 papers

NM_001013251.3

p.R79H

c.236G>A

1 paper

NM_001013251.3

p.R79R

c.237C>A

1 paper

NM_001013251.3

p.R79R

c.237C>T

1 paper

NM_001013251.3

p.T80S

c.238A>T

1 paper

NM_001013251.3

p.R81delFs

c.241delC

1 paper

NM_001013251.3

p.T80S

c.239C>G

1 paper

NM_001013251.3

p.W77*

c.231G>A

1 paper

NM_001013251.3

p.W77*

c.230G>A

1 paper

NM_001013251.3

p.W77G

c.229T>G