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.Y149insFs

c.446_447ins4

Surrounding Variants

1 paper

NM_001013251.3

p.Y149*

c.447C>A

1 paper

NM_001013251.3

p.Y149N

c.445T>A

1 paper

NM_001013251.3

p.D148E

c.444T>A

1 paper

NM_001013251.3

p.D148E

c.444T>G

1 paper

NM_001013251.3

p.D148A

c.443A>C

1 paper

NM_001013251.3

p.S151N

c.452G>A

1 paper

NM_001013251.3

p.L147H

c.440T>A

1 paper

NM_001013251.3

p.L147P

c.440T>C

1 paper

NM_001013251.3

p.L147F

c.439C>T

1 paper

NM_001013251.3

p.S151S

c.453C>T

1 paper

NM_001013251.3

p.S152P

c.454T>C

4 papers

NM_001013251.3

p.R146G

c.436C>G