Varaico: Literature-Extracted Genetic Variants

Gene:SEMA7A
Variant:p.R474Q

SEMA7A

93 papers

RefSeq Summary

This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glyc...

Pfam Domains

Semaaa 138–307UCSCSema domain
PSIaa 327–377UCSCPlexin repeat
Ig_SEMA7Aaa 383–472UCSCSemaphorin-7A-like, immunoglobulin-like domain

Gene Aliases

HGNC Name

semaphorin 7A

HGNC Previous Symbol

SEMAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003612.5
p.R474Q
c.1421G>A
Surrounding Variants
1 paper
NM_003612.5
p.R474L
c.1421G>T
1 paper
NM_003612.5
p.R474P
c.1421G>C
1 paper
NM_003612.5
p.R474W
c.1420C>T
1 paper
NM_003612.5
p.R461delFs
c.1381delG
5 papers
NM_003612.5
p.R461C
c.1381C>T
1 paper
NM_003612.5
p.R461fs
c.1381_1382fs
3 papers
NM_003612.5
p.R460H
c.1379G>A
1 paper
NM_003612.5
p.R460C
c.1378C>T
2 papers
NM_003612.5
p.F459S
c.1376T>C
2 papers
NM_003612.5
p.Q457*
c.1369C>T
1 paper
NM_003612.5
p.I453F
c.1357A>T
1 paper
NM_003612.5
p.Q482P
c.1445A>C
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