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

1 paper

NM_003100.4

p.D186A

c.557A>C

Surrounding Variants

1 paper

NM_003100.4

p.D186N

c.556G>A

2 papers

NM_003100.4

p.S147S

c.441A>T

1 paper

NM_003100.4

p.S147L

c.440C>T

1 paper

NM_003100.4

p.I144F

c.430A>T

1 paper

NM_003100.4

p.D141N

c.421G>A

1 paper

NM_003100.4

p.D138D

c.414C>T

2 papers

NM_003100.4

p.E132K

c.394G>A

1 paper

NM_003100.4

p.K116M

c.347A>T

1 paper

NM_003100.4

p.T107I

c.320C>T

1 paper

NM_003100.4

p.P98R

c.293C>G

1 paper

NM_003100.4

p.E95G

c.284A>G

2 papers

NM_003100.4

p.S94L

c.281C>T