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.M1insFs

c.2_3insT

Surrounding Variants

3 papers

NM_001013251.3

p.M1L

c.1A>C

2 papers

NM_001013251.3

p.M1L

c.1A>T

3 papers

NM_001013251.3

p.M1delFs

c.2delT

1 paper

NM_001013251.3

p.M1delFs

c.1delA

1 paper

NM_001013251.3

p.M1del1

c.1_2delATG

1 paper

NM_001013251.3

p.M1K

c.2T>A

3 papers

NM_001013251.3

p.M1T

c.2T>C

1 paper

NM_001013251.3

p.M1insFs

c.3dupG

3 papers

NM_001013251.3

p.M1I

c.3G>A

1 paper

NM_001013251.3

p.M1I

c.3G>C

1 paper

NM_001013251.3

p.M1_S2insFs

c.3_4insT

4 papers

NM_001013251.3

p.M1I

c.3G>T