Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB1
Variant:p.S515L

PLXNB1

274 papers

Pfam Domains

Semaaa 276–460UCSCSema domain
PSIaa 481–534UCSCPlexin repeat
TIG_plexinaa 540–627UCSCTIG domain
PSI_PlexinA-Baa 641–666UCSCPlexin A/B, PSI domain
TIG_2aa 921–1020UCSCTIG domain found in plexin
TIGaa 1070–1159UCSCIPT/TIG domain

Gene Aliases

HGNC Name

plexin B1

HGNC Previous Symbol

PLXN5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130082.3
p.S515L
c.1544C>T
Surrounding Variants
1 paper
NM_001130082.3
p.Q522Q
c.1566G>A
1 paper
NM_001130082.3
p.L531V
c.1591C>G
1 paper
NM_001130082.3
p.L524_L531del8
c.1570_1592del24
4 papers
NM_001130082.3
p.R546P
c.1637G>C
1 paper
NM_001130082.3
p.V503M
c.1507G>A
1 paper
NM_001130082.3
p.C502C
c.1506C>T
1 paper
NM_001130082.3
p.L474F
c.1420C>T
1 paper
NM_001130082.3
p.P560L
c.1679C>T
1 paper
NM_001130082.3
p.P591S
c.1771C>T
1 paper
NM_001130082.3
p.P591T
c.1771C>A
1 paper
NM_001130082.3
p.P591fs
c.1771_1772fs
1 paper
NM_001130082.3
p.S472N
c.1415G>A
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