Varaico: Literature-Extracted Genetic Variants

SEMA4G

44 papers

RefSeq Summary

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-t...

Pfam Domains

Semaaa 302–487UCSCSema domain

PSIaa 507–558UCSCPlexin repeat

Ig_SEMA7Aaa 576–661UCSCSemaphorin-7A-like, immunoglobulin-like domain

Gene Aliases

HGNC Name

semaphorin 4G

HGNC Alias Symbols

FLJ20590; KIAA1619

Papers

RefSeq ID

Protein change

DNA change

1–12 of 46 variants

3 papers

NM_017893.4

p.R415S

c.1243C>A

2 papers

NM_017893.4

p.R713H

c.2138G>A

1 paper

NM_017893.4

p.E63K

c.187G>A

1 paper

NM_017893.4

p.D83N

c.247G>A

1 paper

NM_017893.4

p.Q112_T113Splc

c.336+1G>A

1 paper

NM_017893.4

p.H136P

c.407A>C

1 paper

NM_017893.4

p.V224M

c.670G>A

1 paper

NM_017893.4

p.R225Q

c.674G>A

1 paper

NM_017893.4

p.V238M

c.712G>A

1 paper

NM_017893.4

p.T243T

c.729G>A

1 paper

NM_017893.4

p.F254L

c.760T>C

1 paper

NM_017893.4

p.F254L

c.762C>A