Varaico: Literature-Extracted Genetic Variants

SNX2

48 papers

RefSeq Summary

This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in prot...

Pfam Domains

Sorting_nexinaa 2–75UCSCSorting nexin, N-terminal domain

PXaa 170–265UCSCPX domain

Vps5aa 281–514UCSCVps5 C terminal like

Gene Aliases

HGNC Name

sorting nexin 2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 70 variants

2 papers

NM_003100.4

p.S94L

c.281C>T

2 papers

NM_003100.4

p.E132K

c.394G>A

2 papers

NM_003100.4

p.S147S

c.441A>T

2 papers

NM_003100.4

p.V406L

c.1216G>T

2 papers

NM_003100.4

p.D441N

c.1321G>A

2 papers

NM_003100.4

p.E479K

c.1435G>A

2 papers

NM_003100.4

p.E481V

c.1442A>T

2 papers

NM_003100.4

p.K487T

c.1460A>C

1 paper

NM_003100.4

p.A2V

c.5C>T

1 paper

NM_003100.4

p.A3T

c.7G>A

1 paper

NM_003100.4

p.G11E

c.32G>A

1 paper

NM_003100.4

p.G24E

c.71G>A