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.I163I

c.489T>C

Surrounding Variants

1 paper

NM_001013251.3

p.P162S

c.484C>T

1 paper

NM_001013251.3

p.K165K

c.495G>A

1 paper

NM_001013251.3

p.G161S

c.481G>A

2 papers

NM_001013251.3

p.G161C

c.481G>T

1 paper

NM_001013251.3

p.Q167R

c.500A>G

2 papers

NM_001013251.3

p.V159A

c.476T>C

1 paper

NM_001013251.3

p.K168R

c.503A>G

1 paper

NM_001013251.3

p.V159M

c.475G>A

1 paper

NM_001013251.3

p.D169A

c.506A>C

3 papers

NM_001013251.3

p.L158F

c.472C>T

1 paper

NM_001013251.3

p.D169_D170insFs

c.507_508ins4

1 paper

NM_001013251.3

p.K156K

c.468G>A