Varaico: Literature-Extracted Genetic Variants

SEMA5A

133 papers

RefSeq Summary

This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal g...

Pfam Domains

Semaaa 291–466UCSCSema domain

PSIaa 486–533UCSCPlexin repeat

TSP_1aa 599–650UCSCThrombospondin type 1 domain

TSP_1aa 657–701UCSCThrombospondin type 1 domain

TSP1_2aa 702–767UCSCSEMA5B-like, TSP-1 type 1

TSP_1aa 788–838UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

semaphorin 5A

HGNC Previous Symbol

SEMAF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003966.3

p.R747S

c.2241A>T

Surrounding Variants

1 paper

NM_003966.3

p.R747S

c.2241A>C

1 paper

NM_003966.3

p.E751K

c.2251G>A

1 paper

NM_003966.3

p.P740L

c.2219C>T

2 papers

NM_003966.3

p.D758Y

c.2272G>T

1 paper

NM_003966.3

p.D758D

c.2274C>T

1 paper

NM_003966.3

p.K734E

c.2200A>G

1 paper

NM_003966.3

p.Y731C

c.2192A>G

1 paper

NM_003966.3

p.R728*

c.2182C>T

1 paper

NM_003966.3

p.V716V

c.2148C>G

1 paper

NM_003966.3

p.P712P

c.2136C>T

1 paper

NM_003966.3

p.T711S

c.2131A>T

1 paper

NM_003966.3

p.T708M

c.2123C>T