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.Y124H

c.370T>C

Surrounding Variants

2 papers

NM_001013251.3

p.Y124D

c.370T>G

3 papers

NM_001013251.3

p.Y124C

c.371A>G

1 paper

NM_001013251.3

p.L123L

c.369C>A

1 paper

NM_001013251.3

p.Y124*

c.372C>G

1 paper

NM_001013251.3

p.R125C

c.373C>T

1 paper

NM_001013251.3

p.G121G

c.363C>G

1 paper

NM_001013251.3

p.G121G

c.363C>T

1 paper

NM_001013251.3

p.I126_G127delFs

c.378_379delCG

1 paper

NM_001013251.3

p.I126I

c.378C>T

2 papers

NM_001013251.3

p.G121D

c.362G>A

1 paper

NM_001013251.3

p.G121A

c.362G>C

1 paper

NM_001013251.3

p.G121delFs

c.363delC