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

1–12 of 93 variants

2 papers

NM_001031702.4

p.Q128R

c.383A>G

2 papers

NM_001031702.4

p.R273H

c.818G>A

2 papers

NM_001031702.4

p.K323K

c.969G>A

2 papers

NM_001031702.4

p.A383G

c.1148C>G

2 papers

NM_001031702.4

p.F684S

c.2051T>C

2 papers

NM_001031702.4

p.M742T

c.2225T>C

1 paper

NM_001031702.4

p.H12Q

c.36C>G

1 paper

NM_001031702.4

p.H12Q

c.36C>A

1 paper

NM_001031702.4

p.G42S

c.124G>A

1 paper

NM_001031702.4

p.G42S

c.124G>A

1 paper

NM_001031702.4

p.E55E

c.165G>A

1 paper

NM_001031702.4

p.Q95R

c.284A>G