Varaico: Literature-Extracted Genetic Variants

Gene:SEMA4G
Variant:p.R521Q

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
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
1 paper
NM_017893.4
p.R521Q
c.1562G>A
Surrounding Variants
1 paper
NM_017893.4
p.L519S
c.1556T>C
1 paper
NM_017893.4
p.R510H
c.1529G>A
1 paper
NM_017893.4
p.A537P
c.1609G>C
1 paper
NM_017893.4
p.H466H
c.1398C>T
1 paper
NM_017893.4
p.V459I
c.1375G>A
1 paper
NM_017893.4
p.D444N
c.1330G>A
1 paper
NM_017893.4
p.R426R
c.1278C>T
1 paper
NM_017893.4
p.R426C
c.1276C>T
1 paper
NM_017893.4
p.R423H
c.1268G>A
3 papers
NM_017893.4
p.R415S
c.1243C>A
1 paper
NM_017893.4
p.H404Y
c.1210C>T
1 paper
NM_017893.4
p.L403F
c.1209G>C
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