Varaico: Literature-Extracted Genetic Variants

Gene:SEMA4D
Variant:p.Q497P

SEMA4D

95 papers

Pfam Domains

Semaaa 293–480UCSCSema domain
PSIaa 502–554UCSCPlexin repeat
igaa 562–637UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

semaphorin 4D

HGNC Previous Symbols

SEMAJ; C9orf164

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371194.2
p.Q497P
c.1490A>C
Surrounding Variants
4 papers
NM_001371194.2
p.A515V
c.1544C>T
3 papers
NM_001371194.2
p.C520Y
c.1559G>A
1 paper
NM_001371194.2
p.W522*
c.1566G>A
1 paper
NM_001371194.2
p.A527V
c.1580C>T
1 paper
NM_001371194.2
p.E545K
c.1633G>A
1 paper
NM_001371194.2
p.S557_K558del2
c.1669_1673del6
1 paper
NM_001371194.2
p.R584Q
c.1751G>A
2 papers
NM_001371194.2
p.G592D
c.1775G>A
1 paper
NM_001371194.2
p.H642D
c.1924C>G
1 paper
NM_001371194.2
p.V653I
c.1957G>A
1 paper
NM_001371194.2
p.K671fs
c.2011_2012fs
1 paper
NM_001371194.2
p.K671insFs
c.2012_2013insC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."