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.V47V

c.141G>T

Surrounding Variants

2 papers

NM_001013251.3

p.A48T

c.142G>A

1 paper

NM_001013251.3

p.V47E

c.140T>A

1 paper

NM_001013251.3

p.A48_E49del1

c.143_145delCGG

1 paper

NM_001013251.3

p.A48V

c.143C>T

3 papers

NM_001013251.3

p.K46R

c.137A>G

1 paper

NM_001013251.3

p.E49K

c.145G>A

1 paper

NM_001013251.3

p.E49V

c.146A>T

1 paper

NM_001013251.3

p.E49D

c.147A>T

1 paper

NM_001013251.3

p.I45T

c.134T>C

1 paper

NM_001013251.3

p.D50D

c.150C>T

1 paper

NM_001013251.3

p.K44N

c.132G>C

1 paper

NM_001013251.3

p.K44M

c.131A>T