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.K144R

c.431A>G

Surrounding Variants

2 papers

NM_001013251.3

p.K144M

c.431A>T

1 paper

NM_001013251.3

p.K144*

c.430A>T

2 papers

NM_001013251.3

p.G145R

c.433G>C

1 paper

NM_001013251.3

p.L143M

c.427C>A

1 paper

NM_001013251.3

p.L143L

c.427C>T

1 paper

NM_001013251.3

p.G145G

c.435G>A

4 papers

NM_001013251.3

p.R146G

c.436C>G

1 paper

NM_001013251.3

p.L143_G145del3

c.427_434del9

1 paper

NM_001013251.3

p.G142Splc

c.425-1G>C

1 paper

NM_001013251.3

p.L147F

c.439C>T

1 paper

NM_001013251.3

p.L147H

c.440T>A

1 paper

NM_001013251.3

p.L147P

c.440T>C