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

3 papers

NM_017893.4

p.R415S

c.1243C>A

Surrounding Variants

1 paper

NM_017893.4

p.R423H

c.1268G>A

1 paper

NM_017893.4

p.H404Y

c.1210C>T

1 paper

NM_017893.4

p.R426C

c.1276C>T

1 paper

NM_017893.4

p.L403F

c.1209G>C

1 paper

NM_017893.4

p.R426R

c.1278C>T

1 paper

NM_017893.4

p.S389L

c.1166C>T

1 paper

NM_017893.4

p.D444N

c.1330G>A

1 paper

NM_017893.4

p.Y365S

c.1094A>C

1 paper

NM_017893.4

p.W362*

c.1086G>A

1 paper

NM_017893.4

p.W362*

c.1085G>A

1 paper

NM_017893.4

p.V459I

c.1375G>A

1 paper

NM_017893.4

p.L331V

c.991C>G