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.F196S

c.587T>C

Surrounding Variants

1 paper

NM_017514.5

p.L198L

c.594C>T

1 paper

NM_017514.5

p.D189G

c.566A>G

1 paper

NM_017514.5

p.S182R

c.546C>G

1 paper

NM_017514.5

p.G173S

c.517G>A

1 paper

NM_017514.5

p.G161G

c.483G>A

1 paper

NM_017514.5

p.M151V

c.451A>G

2 papers

NM_017514.5

p.P134L

c.401C>T

1 paper

NM_017514.5

p.D127N

c.379G>A

1 paper

NM_017514.5

p.R108C

c.322C>T

1 paper

NM_017514.5

p.R107H

c.320G>A

1 paper

NM_017514.5

p.R107C

c.319C>T

1 paper

NM_017514.5

p.R89R

c.267C>G