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.R127W

c.379C>T

Surrounding Variants

1 paper

NM_003966.3

p.G124S

c.370G>A

1 paper

NM_003966.3

p.C131S

c.391T>A

1 paper

NM_003966.3

p.R119W

c.355C>T

1 paper

NM_003966.3

p.S144S

c.432G>A

1 paper

NM_003966.3

p.R160L

c.479G>T

1 paper

NM_003966.3

p.T183K

c.548C>A

2 papers

NM_003966.3

p.R196*

c.586C>T

1 paper

NM_003966.3

p.T206M

c.617C>T