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

5 papers

NM_001013251.3

p.C330S

c.988T>A

Surrounding Variants

5 papers

NM_001013251.3

p.C330S

c.989G>C

1 paper

NM_001013251.3

p.S333I

c.998G>T

1 paper

NM_001013251.3

p.G326D

c.977G>A

1 paper

NM_001013251.3

p.T325I

c.974C>T

1 paper

NM_001013251.3

p.S333_L334Splc

c.999+5G>A

1 paper

NM_001013251.3

p.A324P

c.970G>C

1 paper

NM_001013251.3

p.N323_A324del1

c.969_971delTGC

1 paper

NM_001013251.3

p.L322insFs

c.965_966insA

1 paper

NM_001013251.3

p.L322insFs

c.965_966insC

2 papers

NM_001013251.3

p.Y321C

c.962A>G

1 paper

NM_001013251.3

p.Y321H

c.961T>C

1 paper

NM_001013251.3

p.Q320R

c.959A>G