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.T131I

c.392C>T

Surrounding Variants

1 paper

NM_006802.4

p.D132N

c.394G>A

1 paper

NM_006802.4

p.E133D

c.399A>T

1 paper

NM_006802.4

p.E133E

c.399A>G

1 paper

NM_006802.4

p.E133D

c.399A>C

1 paper

NM_006802.4

p.E134E

c.402G>A

1 paper

NM_006802.4

p.Y139C

c.416A>G

1 paper

NM_006802.4

p.L142L

c.426C>G

1 paper

NM_006802.4

p.C145R

c.433T>C

1 paper

NM_006802.4

p.E156_K157Splc

c.468+2T>G

1 paper

NM_006802.4

p.R184Splc

c.551+7A>G

1 paper

NM_006802.4

p.Q90L

c.269A>T

1 paper

NM_006802.4

p.R87K

c.260G>A