Varaico: Literature-Extracted Genetic Variants

Gene:SEMA4D
Variant:p.R113Q

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
2 papers
NM_001371194.2
p.R113Q
c.338G>A
Surrounding Variants
1 paper
NM_001371194.2
p.G101E
c.302G>A
1 paper
NM_001371194.2
p.K93N
c.279A>T
1 paper
NM_001371194.2
p.S90*
c.269C>G
1 paper
NM_001371194.2
p.S90*
c.269C>A
1 paper
NM_001371194.2
p.W87G
c.259T>G
1 paper
NM_001371194.2
p.F143C
c.428T>G
1 paper
NM_001371194.2
p.D151N
c.451G>A
1 paper
NM_001371194.2
p.D151G
c.452A>G
1 paper
NM_001371194.2
p.V167I
c.499G>A
1 paper
NM_001371194.2
p.S178P
c.532T>C
1 paper
NM_001371194.2
p.E185D
c.555A>T
1 paper
NM_001371194.2
p.P186delFs
c.557_558delGG
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