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.Q130R

c.389A>G

Surrounding Variants

1 paper

NM_001013251.3

p.A131S

c.391G>T

2 papers

NM_001013251.3

p.L129F

c.385C>T

1 paper

NM_001012662.3

p.D230E

c.690C>G

1 paper

NM_001013251.3

p.F132I

c.394T>A

1 paper

NM_001013251.3

p.D128G

c.383A>G

1 paper

NM_001013251.3

p.Q133*

c.397C>T

1 paper

NM_001013251.3

p.Q133L

c.398A>T

1 paper

NM_001013251.3

p.I126I

c.378C>T

1 paper

NM_001013251.3

p.G134S

c.400G>A

1 paper

NM_001013251.3

p.G134R

c.400G>C

1 paper

NM_001013251.3

p.G134V

c.401G>T

1 paper

NM_001013251.3

p.I126_G127delFs

c.378_379delCG