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.V238A

c.713T>C

Surrounding Variants

1 paper

NM_003966.3

p.R234Q

c.701G>A

1 paper

NM_003966.3

p.A251V

c.752C>T

1 paper

NM_003966.3

p.R252W

c.754C>T

1 paper

NM_003966.3

p.V220A

c.659T>C

1 paper

NM_003966.3

p.E290K

c.868G>A

1 paper

NM_003966.3

p.E290D

c.870A>T

1 paper

NM_003966.3

p.E290D

c.870A>C

1 paper

NM_003966.3

p.N312N

c.936C>T

2 papers

NM_003966.3

p.A315V

c.944C>T

1 paper

NM_003966.3

p.V321I

c.961G>A

1 paper

NM_003966.3

p.F331S

c.992T>C

1 paper

NM_003966.3

p.R342L

c.1025G>T