Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3D
Variant:p.N744K

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
2 papers
NM_001384900.1
p.N744K
c.2232C>G
Surrounding Variants
2 papers
NM_001384900.1
p.N744K
c.2232C>A
1 paper
NM_001384900.1
p.Q742R
c.2225A>G
1 paper
NM_001384900.1
p.R740W
c.2218C>T
1 paper
NM_001384900.1
p.Q754*
c.2260C>T
1 paper
NM_001384900.1
p.E732K
c.2194G>A
1 paper
NM_001384900.1
p.K757N
c.2271G>T
1 paper
NM_001384900.1
p.K757N
c.2271G>C
2 papers
NM_001384900.1
p.R760*
c.2278C>T
1 paper
NM_001384900.1
p.D728H
c.2182G>C
1 paper
NM_001384900.1
p.I719I
c.2157C>T
1 paper
NM_001384900.1
p.L771F
c.2311C>T
1 paper
NM_001384900.1
p.R773G
c.2317A>G
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