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

2 papers

NM_001013251.3

p.A55T

c.163G>A

Surrounding Variants

1 paper

NM_001013251.3

p.A55P

c.163G>C

1 paper

NM_001013251.3

p.A55G

c.164C>G

1 paper

NM_001013251.3

p.A55V

c.164C>T

1 paper

NM_001013251.3

p.A55A

c.165A>C

1 paper

NM_001013251.3

p.E53A

c.158A>C

1 paper

NM_001013251.3

p.E53K

c.157G>A

1 paper

NM_001013251.3

p.E53*

c.157G>T

1 paper

NM_001013251.3

p.A57E

c.170C>A

1 paper

NM_001013251.3

p.A57insFs

c.171dupG

8 papers

NM_001013251.3

p.A57G

c.170C>G

1 paper

NM_001013251.3

p.A57V

c.170C>T

1 paper

NM_001013251.3

p.A52_A54delins

c.155_162delinsGCACA