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.V14fs

c.40_41fs

Surrounding Variants

3 papers

NM_017514.5

p.V14insFs

c.42dupG

1 paper

NM_017514.5

p.G15G

c.45G>A

2 papers

NM_017514.5

p.A17fs

c.49_50fs

1 paper

NM_017514.5

p.G19S

c.55G>A

2 papers

NM_017514.5

p.G19D

c.56G>A

1 paper

NM_017514.5

p.M1T

c.2T>C

1 paper

NM_017514.5

p.R40W

c.118C>T

1 paper

NM_017514.5

p.V47M

c.139G>A

1 paper

NM_017514.5

p.R52*

c.154C>T

1 paper

NM_017514.5

p.A57V

c.170C>T

1 paper

NM_017514.5

p.R64W

c.190C>T

2 papers

NM_017514.5

p.P70L

c.209C>T