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_001256348.2

p.S472R

c.1414A>C

Surrounding Variants

1 paper

NM_001256348.2

p.S472R

c.1416C>G

1 paper

NM_001256348.2

p.S472R

c.1416C>A

1 paper

NM_001031702.4

p.E526Q

c.1576G>C

1 paper

NM_001031702.4

p.P522R

c.1565C>G

1 paper

NM_001031702.4

p.T504T

c.1512G>A

1 paper

NM_001031702.4

p.S503S

c.1509C>G

1 paper

NM_001031702.4

p.S561R

c.1681A>C

1 paper

NM_001031702.4

p.S561R

c.1683C>G

1 paper

NM_001031702.4

p.S561R

c.1683C>A

1 paper

NM_001031702.4

p.V488A

c.1463T>C

1 paper

NM_001031702.4

p.P462R

c.1385C>G

1 paper

NM_001031702.4

p.P457P

c.1371G>T