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.R105_A106insFs

c.315_316insA

Surrounding Variants

1 paper

NM_001013251.3

p.R105L

c.314G>T

1 paper

NM_001013251.3

p.V104insFs

c.310_311insC

1 paper

NM_001013251.3

p.P107T

c.319C>A

1 paper

NM_001013251.3

p.I103_V104insFs

c.309_310ins4

1 paper

NM_001013251.3

p.I103_V104ins1

c.309_310insCCT

1 paper

NM_001013251.3

p.I103_V104insFs

c.309_310insCT

1 paper

NM_001013251.3

p.P107S

c.319C>T

1 paper

NM_001013251.3

p.P107L

c.320C>T

1 paper

NM_001013251.3

p.I102I

c.306A>T

1 paper

NM_001013251.3

p.R108_C109insG

c.322_326ins3

1 paper

NM_001013251.3

p.R108H

c.323G>A

1 paper

NM_001013251.3

p.I102insFs

c.304_305insA