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.L90L

c.270C>T

Surrounding Variants

1 paper

NM_001013251.3

p.G91S

c.271G>A

1 paper

NM_001013251.3

p.G91C

c.271G>T

1 paper

NM_001013251.3

p.L90P

c.269T>C

1 paper

NM_001013251.3

p.G91A

c.272G>C

1 paper

NM_001013251.3

p.G91V

c.272G>T

1 paper

NM_001013251.3

p.G91_W92insFs

c.273_274insA

1 paper

NM_001013251.3

p.W89C

c.267G>T

1 paper

NM_001013251.3

p.W89L

c.266G>T

1 paper

NM_001013251.3

p.W92R

c.274T>C

3 papers

NM_001013251.3

p.F88L

c.264C>A

3 papers

NM_001013251.3

p.F88L

c.264C>G

1 paper

NM_001013251.3

p.W92C

c.276G>T