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.Y303_L304insFs

c.909_910insA

Surrounding Variants

1 paper

NM_001013251.3

p.L304_S305insA

c.910_914ins3

1 paper

NM_001013251.3

p.Y303H

c.907T>C

1 paper

NM_001013251.3

p.S302A

c.904T>G

1 paper

NM_001013251.3

p.S302insFs

c.904_905insC

1 paper

NM_001013251.3

p.S301S

c.903C>T

1 paper

NM_001013251.3

p.S302_Y303del1

c.905_907delCAT

1 paper

NM_001013251.3

p.S301N

c.902G>A

1 paper

NM_001013251.3

p.S301I

c.902G>T

1 paper

NM_001013251.3

p.S301fs

c.901_902fs

1 paper

NM_001013251.3

p.S301fs

c.901_902fs

1 paper

NM_001013251.3

p.S307T

c.919T>A

1 paper

NM_001013251.3

p.T300insFs

c.899dupC