Varaico: Literature-Extracted Genetic Variants

Gene:PLXNA1
Variant:p.S593L

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
1 paper
NM_032242.4
p.S593L
c.1778C>T
Surrounding Variants
1 paper
NM_032242.4
p.G595S
c.1783G>A
2 papers
NM_032242.4
p.V589M
c.1765G>A
1 paper
NM_032242.4
p.A586D
c.1757C>A
1 paper
NM_032242.4
p.E601delFs
c.1801delG
1 paper
NM_032242.4
p.E601*
c.1801G>T
1 paper
NM_032242.4
p.E601D
c.1803G>C
1 paper
NM_032242.4
p.E601D
c.1803G>T
1 paper
NM_032242.4
p.F603L
c.1809C>A
1 paper
NM_032242.4
p.S608S
c.1824C>T
1 paper
NM_032242.4
p.V609I
c.1825G>A
1 paper
NM_032242.4
p.R618C
c.1852C>T
1 paper
NM_032242.4
p.A622T
c.1864G>A
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