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

4 papers

NM_001013251.3

p.K10R

c.29A>G

Surrounding Variants

1 paper

NM_001013251.3

p.K10M

c.29A>T

2 papers

NM_001013251.3

p.K10Q

c.28A>C

1 paper

NM_001013251.3

p.K10K

c.30G>A

1 paper

NM_001013251.3

p.M9I

c.27G>A

1 paper

NM_001013251.3

p.E11K

c.31G>A

1 paper

NM_001013251.3

p.K10insFs

c.28_29insA

3 papers

NM_001013251.3

p.M9R

c.26T>G

1 paper

NM_001013251.3

p.M9_K10insA

c.25_29ins3

1 paper

NM_001013251.3

p.M9L

c.25A>T

1 paper

NM_001013251.3

p.E11_V12delins

c.33_34delinsCT

1 paper

NM_001013251.3

p.V12M

c.34G>A

1 paper

NM_001013251.3

p.D8A

c.23A>C