Varaico: Literature-Extracted Genetic Variants

SEMA5B

74 papers

RefSeq Summary

This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-termin...

Pfam Domains

Semaaa 359–535UCSCSema domain

PSIaa 555–602UCSCPlexin repeat

TSP_1aa 668–719UCSCThrombospondin type 1 domain

TSP_1aa 726–770UCSCThrombospondin type 1 domain

TSP1_2aa 771–836UCSCSEMA5B-like, TSP-1 type 1

TSP_1aa 857–907UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

semaphorin 5B

HGNC Previous Symbol

SEMAG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001031702.4

p.R273H

c.818G>A

Surrounding Variants

1 paper

NM_001031702.4

p.E246G

c.737A>G

1 paper

NM_001031702.4

p.R234L

c.701G>T

1 paper

NM_001031702.4

p.R228C

c.682C>T

1 paper

NM_001031702.4

p.G225D

c.674G>A

1 paper

NM_001031702.4

p.N224S

c.671A>G

1 paper

NM_001031702.4

p.I223M

c.669C>G

1 paper

NM_001031702.4

p.I220T

c.659T>C

1 paper

NM_001031702.4

p.Q212*

c.634C>T

1 paper

NM_001031702.4

p.V196M

c.586G>A

1 paper

NM_001031702.4

p.V191V

c.573C>T

1 paper

NM_001031702.4

p.E179_E180Splc

c.538-2A>T

1 paper

NM_001031702.4

p.V288M

c.862G>A