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.E38*

c.112G>T

Surrounding Variants

1 paper

NM_001013251.3

p.E38K

c.112G>A

2 papers

NM_002394.6

p.E139Q

c.415G>C

NM_001013251.3

p.E38Q

c.112G>C

1 paper

NM_001013251.3

p.E38insFs

c.112_113insA

1 paper

NM_001013251.3

p.E38fs

c.112_113fs

2 papers

NM_001013251.3

p.E38A

c.113A>C

1 paper

NM_001013251.3

p.E38E

c.114G>A

1 paper

NM_001013251.3

p.K39Q

c.115A>C

1 paper

NM_001013251.3

p.K39E

c.115A>G

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.G36_A37insFs

c.108_109insG