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

Selected Variant

2 papers

NM_003100.4

p.V406L

c.1216G>T

Surrounding Variants

1 paper

NM_003100.4

p.A430T

c.1288G>A

1 paper

NM_003100.4

p.M434I

c.1302G>A

1 paper

NM_003100.4

p.M434I

c.1302G>C

1 paper

NM_003100.4

p.M434I

c.1302G>T

2 papers

NM_003100.4

p.D441N

c.1321G>A

1 paper

NM_003100.4

p.R451G

c.1351A>G

1 paper

NM_003100.4

p.K456R

c.1367A>G

1 paper

NM_003100.4

p.D463N

c.1387G>A

1 paper

NM_003100.4

p.F478C

c.1433T>G

2 papers

NM_003100.4

p.E479K

c.1435G>A

2 papers

NM_003100.4

p.E481V

c.1442A>T

1 paper

NM_003100.4

p.F486L

c.1456T>C