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

3 papers

NM_001013251.3

p.W82R

c.244T>A

Surrounding Variants

2 papers

NM_001013251.3

p.W82R

c.244T>C

1 paper

NM_001013251.3

p.W82insFs

c.244_245insG

1 paper

NM_001013251.3

p.R81H

c.242G>A

1 paper

NM_001013251.3

p.W82*

c.246G>A

1 paper

NM_001013251.3

p.R81L

c.242G>T

1 paper

NM_001013251.3

p.A83insFs

c.248_249insCT

1 paper

NM_001013251.3

p.T80S

c.239C>G

1 paper

NM_001013251.3

p.T80S

c.238A>T

1 paper

NM_001013251.3

p.R81delFs

c.241delC

1 paper

NM_001013251.3

p.L84V

c.250C>G

1 paper

NM_001013251.3

p.R79R

c.237C>A

1 paper

NM_001013251.3

p.R79R

c.237C>T