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

Selected Variant

2 papers

NM_017893.4

p.R713H

c.2138G>A

Surrounding Variants

1 paper

NM_017893.4

p.R713C

c.2137C>T

1 paper

NM_017893.4

p.R711*

c.2131C>T

1 paper

NM_017893.4

p.G720G

c.2160T>A

1 paper

NM_017893.4

p.Q733H

c.2199G>C

1 paper

NM_017893.4

p.Q733H

c.2199G>T

1 paper

NM_017893.4

p.G690S

c.2068G>A

1 paper

NM_017893.4

p.G741R

c.2221G>A

1 paper

NM_017893.4

p.Y682*

c.2046T>A

1 paper

NM_017893.4

p.D748G

c.2243A>G

1 paper

NM_017893.4

p.E755D

c.2265G>C

1 paper

NM_017893.4

p.E755D

c.2265G>T

1 paper

NM_017893.4

p.P657L

c.1970C>T