Varaico: Literature-Extracted Genetic Variants

Gene:PLXNA1
Variant:p.R42H

PLXNA1

241 papers

Pfam Domains

Semaaa 312–493UCSCSema domain
PSIaa 514–564UCSCPlexin repeat
TIG_plexinaa 569–659UCSCTIG domain
PSI_PlexinA-Baa 667–693UCSCPlexin A/B, PSI domain
TIG_2aa 713–807UCSCTIG domain found in plexin
PSIaa 808–862UCSCPlexin repeat

Gene Aliases

HGNC Name

plexin A1

HGNC Previous Symbol

PLXN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032242.4
p.R42H
c.125G>A
Surrounding Variants
1 paper
NM_032242.4
p.R42G
c.124C>G
1 paper
NM_032242.4
p.R42C
c.124C>T
2 papers
NM_032242.4
p.P40R
c.119C>G
1 paper
NM_032242.4
p.A46_D48del3
c.136_143del9
1 paper
NM_032242.4
p.Q38*
c.112C>T
1 paper
NM_032242.4
p.G35E
c.104G>A
1 paper
NM_032242.4
p.W49*
c.146G>A
1 paper
NM_032242.4
p.T52T
c.156C>A
1 paper
NM_032242.4
p.P31S
c.91C>T
1 paper
NM_032242.4
p.V55delFs
c.163delG
1 paper
NM_032242.4
p.T60K
c.179C>A
1 paper
NM_032242.4
p.T60I
c.179C>T
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