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

1 paper

NM_001031702.4

p.R320H

c.959G>A

Surrounding Variants

1 paper

NM_001031702.4

p.R317H

c.950G>A

2 papers

NM_001031702.4

p.K323K

c.969G>A

1 paper

NM_001031702.4

p.D325N

c.973G>A

1 paper

NM_001031702.4

p.A305E

c.914C>A

1 paper

NM_001031702.4

p.R302R

c.904C>A

1 paper

NM_001031702.4

p.L301fs

c.901_902fs

1 paper

NM_001031702.4

p.L301delFs

c.901delG

1 paper

NM_001031702.4

p.A342G

c.1025C>G

1 paper

NM_001031702.4

p.V288M

c.862G>A

1 paper

NM_001031702.4

p.V379L

c.1135G>C

2 papers

NM_001031702.4

p.R273H

c.818G>A

1 paper

NM_001031702.4

p.E246G

c.737A>G