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

4 papers

NM_003966.3

p.S951C

c.2852C>G

Surrounding Variants

1 paper

NM_003966.3

p.A953E

c.2858C>A

1 paper

NM_003966.3

p.E949Splc

c.2846-8T>C

5 papers

NM_003966.3

p.S956G

c.2866A>G

1 paper

NM_003966.3

p.G964E

c.2891G>A

1 paper

NM_003966.3

p.E949Splc

c.2845+5G>T

1 paper

NM_003966.3

p.R938L

c.2813G>T

1 paper

NM_003966.3

p.P925R

c.2774C>G

1 paper

NM_003966.3

p.L923L

c.2769G>A

1 paper

NM_003966.3

p.R918H

c.2753G>A

1 paper

NM_003966.3

p.R918C

c.2752C>T

1 paper

NM_003966.3

p.R918S

c.2752C>A

1 paper

NM_003966.3

p.A917T

c.2749G>A