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

2 papers

NM_003966.3

p.S519R

c.1555A>C

Surrounding Variants

2 papers

NM_003966.3

p.S519R

c.1557C>G

2 papers

NM_003966.3

p.S519R

c.1557C>A

1 paper

NM_003966.3

p.C513Y

c.1538G>A

1 paper

NM_003966.3

p.A531T

c.1591G>A

1 paper

NM_003966.3

p.P533P

c.1599G>A

1 paper

NM_003966.3

p.P533_T534Splc

c.1599+327G>A