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.V276A

c.827T>C

Surrounding Variants

1 paper

NM_017514.5

p.C282Y

c.845G>A

1 paper

NM_017514.5

p.A267V

c.800C>T

3 papers

NM_017514.5

p.A267T

c.799G>A

2 papers

NM_017514.5

p.R264H

c.791G>A

1 paper

NM_017514.5

p.R264C

c.790C>T

2 papers

NM_017514.5

p.V263fs

c.787_788fs

2 papers

NM_017514.5

p.V263_C266delFs

c.787_796del10

2 papers

NM_017514.5

p.R290H

c.869G>A

1 paper

NM_017514.5

p.K261E

c.781A>G

1 paper

NM_017514.5

p.T259M

c.776C>T

1 paper

NM_017514.5

p.A253V

c.758C>T

1 paper

NM_017514.5

p.T248M

c.743C>T