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.A137P

c.409G>C

Surrounding Variants

1 paper

NM_001013251.3

p.G136A

c.407G>C

1 paper

NM_001013251.3

p.G136V

c.407G>T

1 paper

NM_001013251.3

p.G136S

c.406G>A

2 papers

NM_001013251.3

p.G138D

c.413G>A

1 paper

NM_001013251.3

p.G138G

c.414C>A

1 paper

NM_001013251.3

p.H135N

c.403C>A

1 paper

NM_001013251.3

p.H135Y

c.403C>T

1 paper

NM_001013251.3

p.G134V

c.401G>T

1 paper

NM_001013251.3

p.G134S

c.400G>A

1 paper

NM_001013251.3

p.G134R

c.400G>C

1 paper

NM_001013251.3

p.L140Q

c.419T>A

2 papers

NM_001013251.3

p.L140P

c.419T>C