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.A383G

c.1148C>G

Surrounding Variants

1 paper

NM_001031702.4

p.I382M

c.1146C>G

1 paper

NM_001031702.4

p.S385F

c.1154C>T

1 paper

NM_001031702.4

p.V379L

c.1135G>T

1 paper

NM_001031702.4

p.V379L

c.1135G>C

1 paper

NM_001031702.4

p.A389T

c.1165G>A

1 paper

NM_001031702.4

p.A412delFs

c.1234delC

1 paper

NM_001031702.4

p.Q424_C425Splc

c.1272+1G>T

1 paper

NM_001031702.4

p.L450Q

c.1349T>A

1 paper

NM_001031702.4

p.E453Q

c.1357G>C

1 paper

NM_001031702.4

p.V455M

c.1363G>A

1 paper

NM_001031702.4

p.P457P

c.1371G>T

1 paper

NM_001031702.4

p.P462R

c.1385C>G