Varaico: Literature-Extracted Genetic Variants

Gene:PLXNA1
Variant:p.E522D

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.E522D
c.1566G>C
Surrounding Variants
1 paper
NM_032242.4
p.E522D
c.1566G>T
2 papers
NM_032242.4
p.L525delFs
c.1574_1575delTG
1 paper
NM_032242.4
p.L525fs
c.1573_1574fs
1 paper
NM_032242.4
p.L525R
c.1574T>G
1 paper
NM_032242.4
p.T519M
c.1556C>T
2 papers
NM_032242.4
p.R528W
c.1582C>T
3 papers
NM_032242.4
p.Q517*
c.1549C>T
2 papers
NM_032242.4
p.R528Q
c.1583G>A
1 paper
NM_032242.4
p.V536I
c.1606G>A
1 paper
NM_032242.4
p.R509W
c.1525C>T
1 paper
NM_032242.4
p.T508S
c.1522A>T
1 paper
NM_032242.4
p.I540Splc
c.1620-2A>G
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