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.V236M

c.706G>A

Surrounding Variants

1 paper

NM_017514.5

p.F235L

c.705C>A

1 paper

NM_017514.5

p.F235L

c.705C>G

1 paper

NM_017514.5

p.F235L

c.703T>C

1 paper

NM_017514.5

p.T248M

c.743C>T

1 paper

NM_017514.5

p.P220S

c.658C>T

1 paper

NM_017514.5

p.A253V

c.758C>T

1 paper

NM_017514.5

p.L218S

c.653T>C

1 paper

NM_017514.5

p.T215M

c.644C>T

1 paper

NM_017514.5

p.T259M

c.776C>T

1 paper

NM_017514.5

p.K261E

c.781A>G

2 papers

NM_017514.5

p.V263_C266delFs

c.787_796del10

2 papers

NM_017514.5

p.V263fs

c.787_788fs