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.M26L

c.76A>C

Surrounding Variants

1 paper

NM_006802.4

p.M26L

c.76A>T

1 paper

NM_006802.4

p.M26T

c.77T>C

1 paper

NM_006802.4

p.A23T

c.67G>A

1 paper

NM_006802.4

p.K29R

c.86A>G

1 paper

NM_006802.4

p.M19T

c.56T>C

1 paper

NM_006802.4

p.K15R

c.44A>G

1 paper

NM_006802.4

p.R9Q

c.26G>A

1 paper

NM_006802.4

p.Q8L

c.23A>T

1 paper

NM_006802.4

p.T32_L33Splc

c.97-27C>T

1 paper

NM_006802.4

p.Q47E

c.139C>G

1 paper

NM_006802.4

p.D48H

c.142G>C

1 paper

NM_006802.4

p.E52D

c.156G>T