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.L63Q

c.188T>A

Surrounding Variants

1 paper

NM_001013251.3

p.L63R

c.188T>G

1 paper

NM_001013251.3

p.L63L

c.187C>T

2 papers

NM_001013251.3

p.G62D

c.185G>A

1 paper

NM_001013251.3

p.G62S

c.184G>A

1 paper

NM_001013251.3

p.G62C

c.184G>T

1 paper

NM_001013251.3

p.T61T

c.183G>A

1 paper

NM_001013251.3

p.K65T

c.194A>C

1 paper

NM_001013251.3

p.K65M

c.194A>T

2 papers

NM_001013251.3

p.T61R

c.182C>G

1 paper

NM_001013251.3

p.T61_G62insCT

c.181_185ins6

1 paper

NM_001013251.3

p.T61A

c.181A>G

1 paper

NM_001013251.3

p.T61_L68delFs

c.182_203del22