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.S643Splc

c.1928+1G>A

Surrounding Variants

1 paper

NM_017514.5

p.V626M

c.1876G>A

1 paper

NM_017514.5

p.R616Q

c.1847G>A

1 paper

NM_017514.5

p.R613H

c.1838G>A

1 paper

NM_017514.5

p.S646P

c.1936T>C

4 papers

NM_017514.5

p.P653L

c.1958C>T

1 paper

NM_017514.5

p.A570V

c.1709C>T

1 paper

NM_017514.5

p.R666H

c.1997G>A

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.R545Q

c.1634G>A

1 paper

NM_017514.5

p.R543Q

c.1628G>A

1 paper

NM_017514.5

p.Q541H

c.1623G>C