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.L69P

c.206T>C

Surrounding Variants

1 paper

NM_001013251.3

p.L69L

c.205C>T

1 paper

NM_001013251.3

p.K70E

c.208A>G

2 papers

NM_001013251.3

p.L68_L69insFs

c.204_205insA

1 paper

NM_001013251.3

p.L69Fs

c.205_206delinsAACTFs

6 papers

NM_001013251.3

p.K70T

c.209A>C

3 papers

NM_001013251.3

p.K70R

c.209A>G

1 paper

NM_001013251.3

p.V71delFs

c.211delG

1 paper

NM_001013251.3

p.L68P

c.203T>C

1 paper

NM_001013251.3

p.K70N

c.210G>C

1 paper

NM_001013251.3

p.K70N

c.210G>T

1 paper

NM_001013251.3

p.E67V

c.200A>T

1 paper

NM_001013251.3

p.V71A

c.212T>C