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.S309delFs

c.926delC

Surrounding Variants

1 paper

NM_001013251.3

p.S309_T310insCT

c.925_929ins6

1 paper

NM_001013251.3

p.S309_T310insCCT

c.925_929ins9

1 paper

NM_001013251.3

p.S309_T310ins4

c.925_929ins12

1 paper

NM_001013251.3

p.T310_G311insC

c.928_932ins3

1 paper

NM_001013251.3

p.G308fs

c.922_923fs

1 paper

NM_001013251.3

p.S307T

c.919T>A

1 paper

NM_001013251.3

p.G311E

c.932G>A

1 paper

NM_001013251.3

p.E312K

c.934G>A

1 paper

NM_001013251.3

p.H313P

c.938A>C

1 paper

NM_001013251.3

p.H313delFs

c.939delT

1 paper

NM_001013251.3

p.T314S

c.940A>T

1 paper

NM_001013251.3

p.L304_S305insA

c.910_914ins3