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.M742T

c.2225T>C

Surrounding Variants

1 paper

NM_001031702.4

p.C749S

c.2245T>A

1 paper

NM_001031702.4

p.C749S

c.2246G>C

1 paper

NM_001031702.4

p.R799C

c.2395C>T

1 paper

NM_001031702.4

p.G705D

c.2114G>A

1 paper

NM_001031702.4

p.A804T

c.2410G>A

1 paper

NM_001031702.4

p.L806P

c.2417T>C

1 paper

NM_001031702.4

p.R822T

c.2465G>C

2 papers

NM_001031702.4

p.F684S

c.2051T>C

1 paper

NM_001031702.4

p.G683V

c.2048G>T

1 paper

NM_001031702.4

p.T847N

c.2540C>A

1 paper

NM_001031702.4

p.T847delFs

c.2539delT

1 paper

NM_001031702.4

p.V875I

c.2623G>A