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.A27G

c.80C>G

Surrounding Variants

1 paper

NM_001013251.3

p.A27V

c.80C>T

1 paper

NM_001013251.3

p.A27A

c.81G>A

2 papers

NM_001013251.3

p.A27S

c.79G>T

1 paper

NM_001013251.3

p.S28T

c.82T>A

2 papers

NM_001013251.3

p.S28P

c.82T>C

1 paper

NM_001013251.3

p.S28A

c.82T>G

1 paper

NM_001013251.3

p.A26V

c.77C>T

1 paper

NM_001013251.3

p.S28F

c.83C>T

1 paper

NM_001013251.3

p.A26T

c.76G>A

1 paper

NM_001013251.3

p.S28S

c.84T>A

1 paper

NM_001013251.3

p.N25_A26insFs

c.75_76insA

1 paper

NM_001013251.3

p.N25I

c.74A>T