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.S195A

c.583T>G

Surrounding Variants

3 papers

NM_001013251.3

p.A196T

c.586G>A

1 paper

NM_001013251.3

p.A196fs

c.586_587fs

1 paper

NM_001013251.3

p.A196G

c.587C>G

1 paper

NM_001013251.3

p.A196V

c.587C>T

1 paper

NM_001013251.3

p.K197insFs

c.589dupA

1 paper

NM_001013251.3

p.K199delFs

c.596delA

1 paper

NM_001013251.3

p.K197I

c.590A>T

1 paper

NM_001013251.3

p.L192V

c.574C>G

1 paper

NM_001013251.3

p.L192F

c.574C>T

1 paper

NM_001013251.3

p.L192del1

c.574_576delCTC

1 paper

NM_001013251.3

p.K198N

c.594A>C

1 paper

NM_001013251.3

p.K198N

c.594A>T