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.V100E

c.299T>A

Surrounding Variants

1 paper

NM_001013251.3

p.V100M

c.298G>A

1 paper

NM_001013251.3

p.V100L

c.298G>T

1 paper

NM_001013251.3

p.V101insFs

c.302dupT

1 paper

NM_001013251.3

p.V101A

c.302T>C

1 paper

NM_001013251.3

p.V101_I102delFs

c.303_304delCA

1 paper

NM_001013251.3

p.I102insFs

c.304_305insA

1 paper

NM_001013251.3

p.V101V

c.303C>T

1 paper

NM_001013251.3

p.A99T

c.295G>A

1 paper

NM_001013251.3

p.A99P

c.295G>C

1 paper

NM_001013251.3

p.G98D

c.293G>A

1 paper

NM_001013251.3

p.I102I

c.306A>T

1 paper

NM_001013251.3

p.A97_G98insFs

c.291_292insA