Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB1
Variant:p.S454R

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
9 papers
NM_001130082.3
p.S454R
c.1362C>A
Surrounding Variants
9 papers
NM_001130082.3
p.S454R
c.1362C>G
9 papers
NM_001130082.3
p.S454R
c.1360A>C
1 paper
NM_001130082.3
p.D456Y
c.1366G>T
1 paper
NM_001130082.3
p.D460del1
c.1378_1380delATC
1 paper
NM_001130082.3
p.L466Q
c.1397T>A
1 paper
NM_001130082.3
p.Q471R
c.1412A>G
1 paper
NM_001130082.3
p.S472N
c.1415G>A
4 papers
NM_001130082.3
p.P435S
c.1303C>T
1 paper
NM_001130082.3
p.L474F
c.1420C>T
1 paper
NM_001130082.3
p.C502C
c.1506C>T
1 paper
NM_001130082.3
p.V503M
c.1507G>A
1 paper
NM_001130082.3
p.R430S
c.1290G>T
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