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.A35P

c.103G>C

Surrounding Variants

1 paper

NM_001013251.3

p.A35S

c.103G>T

2 papers

NM_001013251.3

p.G36E

c.107G>A

1 paper

NM_001013251.3

p.G36_A37insFs

c.108_109insG

1 paper

NM_001013251.3

p.S33C

c.98C>G

1 paper

NM_001013251.3

p.S33F

c.98C>T

1 paper

NM_001013251.3

p.A37T

c.109G>A

1 paper

NM_001013251.3

p.A37P

c.109G>C

1 paper

NM_001013251.3

p.A37_E38insA

c.109_113ins3

1 paper

NM_001013251.3

p.S33P

c.97T>C

1 paper

NM_001013251.3

p.S33Fs

c.97_98delinsCFs

1 paper

NM_001013251.3

p.M32L

c.94A>T

1 paper

NM_001013251.3

p.E38K

c.112G>A