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.Q3_D4insFs

c.9_10insA

Surrounding Variants

1 paper

NM_001013251.3

p.Q3P

c.8A>C

1 paper

NM_001013251.3

p.Q3R

c.8A>G

1 paper

NM_001013251.3

p.D4N

c.10G>A

1 paper

NM_001013251.3

p.D4A

c.11A>C

1 paper

NM_001013251.3

p.D4V

c.11A>T

1 paper

NM_001013251.3

p.D4E

c.12C>G

2 papers

NM_001013251.3

p.S2S

c.6C>T

1 paper

NM_001013251.3

p.T5A

c.13A>G

4 papers

NM_001013251.3

p.T5S

c.13A>T

1 paper

NM_001013251.3

p.S2T

c.5G>C

1 paper

NM_001013251.3

p.S2I

c.5G>T

1 paper

NM_001013251.3

p.S2_Q3insT

c.4_8ins3