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

1–12 of 131 variants

7 papers

NM_003966.3

p.R676C

c.2026C>T

5 papers

NM_003966.3

p.S956G

c.2866A>G

4 papers

NM_003966.3

p.S951C

c.2852C>G

3 papers

NM_003966.3

p.R493H

c.1478G>A

2 papers

NM_003966.3

p.R196*

c.586C>T

2 papers

NM_003966.3

p.A315V

c.944C>T

2 papers

NM_003966.3

p.S519R

c.1555A>C

2 papers

NM_003966.3

p.S519R

c.1557C>G

2 papers

NM_003966.3

p.S519R

c.1557C>A

2 papers

NM_003966.3

p.D758Y

c.2272G>T

2 papers

NM_003966.3

p.R995W

c.2983C>T

2 papers

NM_003966.3

p.A1003V

c.3008C>T