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.N1052T

c.3155A>C

Surrounding Variants

1 paper

NM_003966.3

p.Y1060N

c.3178T>A

1 paper

NM_003966.3

p.A1033T

c.3097G>A

1 paper

NM_003966.3

p.N1020K

c.3060C>G

1 paper

NM_003966.3

p.N1020K

c.3060C>A

1 paper

NM_003966.3

p.V1009I

c.3025G>A

2 papers

NM_003966.3

p.A1003V

c.3008C>T

1 paper

NM_003966.3

p.R995Q

c.2984G>A

2 papers

NM_003966.3

p.R995W

c.2983C>T

1 paper

NM_003966.3

p.H970Y

c.2908C>T

1 paper

NM_003966.3

p.G964E

c.2891G>A

5 papers

NM_003966.3

p.S956G

c.2866A>G

1 paper

NM_003966.3

p.A953E

c.2858C>A