Varaico: Literature-Extracted Genetic Variants

PLXNA3

159 papers

RefSeq Summary

This gene encodes a member of the plexin class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a ...

Pfam Domains

Semaaa 292–469UCSCSema domain

PSIaa 490–540UCSCPlexin repeat

TIG_plexinaa 545–636UCSCTIG domain

PSIaa 637–684UCSCPlexin repeat

TIG_2aa 690–784UCSCTIG domain found in plexin

PSIaa 785–838UCSCPlexin repeat

Gene Aliases

HGNC Name

plexin A3

HGNC Previous Symbol

PLXN4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017514.5

p.E863D

c.2589G>T

Surrounding Variants

2 papers

NM_017514.5

p.E863D

c.2589G>C

1 paper

NM_017514.5

p.V861M

c.2581G>A

1 paper

NM_017514.5

p.R875W

c.2623C>T

1 paper

NM_017514.5

p.V879M

c.2635G>A

1 paper

NM_017514.5

p.R880C

c.2638C>T

1 paper

NM_017514.5

p.R836W

c.2506C>T

2 papers

NM_017514.5

p.K833*

c.2497A>T

1 paper

NM_017514.5

p.Q832K

c.2494C>A

1 paper

NM_017514.5

p.P906L

c.2717C>T

1 paper

NM_017514.5

p.P821L

c.2462C>T

1 paper

NM_017514.5

p.C820fs

c.2458_2459fs

1 paper

NM_017514.5

p.C820delFs

c.2459delG