Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3D
Variant:p.S65P

SEMA3D

105 papers

RefSeq Summary

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema d...

Pfam Domains

Semaaa 325–513UCSCSema domain
Ig_6aa 595–700UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

semaphorin 3D

HGNC Alias Symbols

coll-2; Sema-Z2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001384900.1
p.S65P
c.193T>C
Surrounding Variants
1 paper
NM_001384900.1
p.S64*
c.191C>G
1 paper
NM_001384900.1
p.S64*
c.191C>A
1 paper
NM_001384900.1
p.G67R
c.199G>C
1 paper
NM_001384900.1
p.G67R
c.199G>A
1 paper
NM_001384900.1
p.L62insFs
c.185_186insT
1 paper
NM_001384900.1
p.L62fs
c.184_185fs
1 paper
NM_001384900.1
p.G67_Q71del5
c.199_212del15
1 paper
NM_001384900.1
p.R79I
c.236G>T
1 paper
NM_001384900.1
p.L84F
c.252G>T
1 paper
NM_001384900.1
p.L84F
c.252G>C
1 paper
NM_001384900.1
p.D88E
c.264C>G
1 paper
NM_001384900.1
p.D88E
c.264C>A
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