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.S316P

c.946T>C

Surrounding Variants

1 paper

NM_001013251.3

p.L317insFs

c.949_950insC

2 papers

NM_001013251.3

p.K315E

c.943A>G

1 paper

NM_001013251.3

p.T314S

c.940A>T

1 paper

NM_001013251.3

p.H313P

c.938A>C

1 paper

NM_001013251.3

p.H313delFs

c.939delT

2 papers

NM_001013251.3

p.T319S

c.955A>T

1 paper

NM_001013251.3

p.Q320insFs

c.958_959insTG

1 paper

NM_001013251.3

p.E312K

c.934G>A

1 paper

NM_001013251.3

p.Q320R

c.959A>G

1 paper

NM_001013251.3

p.G311E

c.932G>A

1 paper

NM_001013251.3

p.Y321H

c.961T>C

2 papers

NM_001013251.3

p.Y321C

c.962A>G