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

1 paper

NM_017514.5

p.V722V

c.2166G>A

Surrounding Variants

1 paper

NM_017514.5

p.R728Q

c.2183G>A

2 papers

NM_017514.5

p.R705W

c.2113C>T

1 paper

NM_017514.5

p.E681K

c.2041G>A

1 paper

NM_017514.5

p.E681*

c.2041G>T

1 paper

NM_017514.5

p.R666H

c.1997G>A

1 paper

NM_017514.5

p.F763F

c.2289T>C

1 paper

NM_017514.5

p.V765M

c.2293G>A

1 paper

NM_017514.5

p.D770N

c.2308G>A

4 papers

NM_017514.5

p.P653L

c.1958C>T

1 paper

NM_017514.5

p.S646P

c.1936T>C

1 paper

NM_017514.5

p.A781G

c.2342C>G

1 paper

NM_017514.5

p.A781G

c.2342C>G