Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.R197Q

SEMA3A

225 papers

RefSeq Summary

This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either ...

Pfam Domains

Semaaa 308–496UCSCSema domain
Ig_6aa 568–674UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

semaphorin 3A

HGNC Previous Symbol

SEMAD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_006080.3
p.R197Q
c.590G>A
Surrounding Variants
2 papers
NM_006080.3
p.R197*
c.589C>T
1 paper
NM_006080.3
p.D198N
c.592G>A
1 paper
NM_006080.3
p.F199_I201del3
c.595_602del9
2 papers
NM_006080.3
p.R203*
c.607C>T
1 paper
NM_006080.3
p.S188F
c.563C>T
1 paper
NM_006080.3
p.I211M
c.633C>G
1 paper
NM_006080.3
p.P210_T213delFs
c.630_637del8
1 paper
NM_006080.3
p.D183Splc
c.548-45C>T
1 paper
NM_006080.3
p.D183Splc
c.548-67T>C
1 paper
NM_006080.3
p.D183Splc
c.548-79G>C
1 paper
NM_006080.3
p.D183Splc
c.548-92T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."