Varaico: Literature-Extracted Genetic Variants

SF3A3

68 papers

RefSeq Summary

This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP int...

Pfam Domains

SF3a60_bindingdaa 74–100UCSCSplicing factor SF3a60 binding domain

SF3A3aa 129–180UCSCPre-mRNA-splicing factor SF3A3, of SF3a complex, Prp9

SDE2_2Caa 224–303UCSCReplication stress response SDE2 C-terminal

SF3a60_Prp9_Caa 382–501UCSCSF3a60/Prp9 C-terminal

Gene Aliases

HGNC Name

splicing factor 3a subunit 3

HGNC Alias Symbols

SF3a60; SAP61; PRP9; PRPF9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006802.4

p.A282A

c.846C>T

Surrounding Variants

1 paper

NM_006802.4

p.Q283H

c.849G>T

1 paper

NM_006802.4

p.Q283H

c.849G>C

1 paper

NM_006802.4

p.G290R

c.868G>C

1 paper

NM_006802.4

p.G290R

c.868G>A

1 paper

NM_006802.4

p.L293V

c.877C>G

1 paper

NM_006802.4

p.P305P

c.915C>T

1 paper

NM_006802.4

p.G309S

c.925G>A

2 papers

NM_006802.4

p.G276Splc

c.827+2T>G

1 paper

NM_006802.4

p.A269T

c.805G>A

1 paper

NM_006802.4

p.E218Q

c.652G>C

1 paper

NM_006802.4

p.E216K

c.646G>A

1 paper

NM_006802.4

p.L209F

c.625C>T